SNP Links for Protein (Select 354542551) - SNP

Select item 14819620471.

rs1481962047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:24535136 (GRCh38)
1:24861626 (GRCh37)
Canonical SPDI:: NC_000001.11:24535135:C:T
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.24535136C>T, NC_000001.10:g.24861626C>T, NM_013441.4:c.585C>T, NM_013441.3:c.585C>T, NM_001251977.2:c.585C>T, NM_001251977.1:c.585C>T, NM_001251979.2:c.585C>T, NM_001251979.1:c.585C>T, NM_001251981.2:c.411C>T, NM_001251981.1:c.411C>T, NM_001251983.2:c.210C>T, NM_001251983.1:c.210C>T, NM_001251984.2:c.210C>T, NM_001251984.1:c.210C>T, NM_001251978.1:c.585C>T, NM_001251980.1:c.555C>T, NM_001251982.1:c.413C>T, NM_001251985.1:c.239C>T, NP_001238911.1:p.Ala138Val, NP_001238914.1:p.Ala80Val

Select item 14771762582.

rs1477176258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:24533200 (GRCh38)
1:24859690 (GRCh37)
Canonical SPDI:: NC_000001.11:24533199:G:A
Gene:: RCAN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.24533200G>A, NC_000001.10:g.24859690G>A, NM_013441.4:c.487G>A, NM_013441.3:c.487G>A, NM_001251977.2:c.487G>A, NM_001251977.1:c.487G>A, NM_001251979.2:c.487G>A, NM_001251979.1:c.487G>A, NM_001251981.2:c.313G>A, NM_001251981.1:c.313G>A, NM_001251983.2:c.112G>A, NM_001251983.1:c.112G>A, NM_001251984.2:c.112G>A, NM_001251984.1:c.112G>A, NM_001251978.1:c.487G>A, NM_001251980.1:c.457G>A, NP_038469.1:p.Ala163Thr, NP_001238906.1:p.Ala163Thr, NP_001238908.1:p.Ala163Thr, NP_001238910.1:p.Ala105Thr, NP_001238912.1:p.Ala38Thr, NP_001238913.1:p.Ala38Thr, NP_001238907.1:p.Ala163Thr, NP_001238909.1:p.Ala153Thr

Select item 14683144733.

rs1468314473 has merged into rs1279762285 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 1:24533170 (GRCh38)
1:24859660 (GRCh37)
Canonical SPDI:: NC_000001.11:24533169:CCCCC:CCCC,NC_000001.11:24533169:CCCCC:CCCCCC
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.24533174del, NC_000001.11:g.24533174dup, NC_000001.10:g.24859664del, NC_000001.10:g.24859664dup, NM_013441.4:c.461del, NM_013441.4:c.461dup, NM_013441.3:c.461del, NM_013441.3:c.461dup, NM_001251977.2:c.461del, NM_001251977.2:c.461dup, NM_001251977.1:c.461del, NM_001251977.1:c.461dup, NM_001251979.2:c.461del, NM_001251979.2:c.461dup, NM_001251979.1:c.461del, NM_001251979.1:c.461dup, NM_001251981.2:c.287del, NM_001251981.2:c.287dup, NM_001251981.1:c.287del, NM_001251981.1:c.287dup, NM_001251983.2:c.86del, NM_001251983.2:c.86dup, NM_001251983.1:c.86del, NM_001251983.1:c.86dup, NM_001251984.2:c.86del, NM_001251984.2:c.86dup, NM_001251984.1:c.86del, NM_001251984.1:c.86dup, NM_001251978.1:c.461del, NM_001251978.1:c.461dup, NM_001251980.1:c.431del, NM_001251980.1:c.431dup, NP_038469.1:p.Pro154fs, NP_038469.1:p.Val155fs, NP_001238906.1:p.Pro154fs, NP_001238906.1:p.Val155fs, NP_001238908.1:p.Pro154fs, NP_001238908.1:p.Val155fs, NP_001238910.1:p.Pro96fs, NP_001238910.1:p.Val97fs, NP_001238912.1:p.Pro29fs, NP_001238912.1:p.Val30fs, NP_001238913.1:p.Pro29fs, NP_001238913.1:p.Val30fs, NP_001238907.1:p.Pro154fs, NP_001238907.1:p.Val155fs, NP_001238909.1:p.Pro144fs, NP_001238909.1:p.Val145fs

Select item 14588081994.

rs1458808199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:24533186 (GRCh38)
1:24859676 (GRCh37)
Canonical SPDI:: NC_000001.11:24533185:A:C
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.24533186A>C, NC_000001.10:g.24859676A>C, NM_013441.4:c.473A>C, NM_013441.3:c.473A>C, NM_001251977.2:c.473A>C, NM_001251977.1:c.473A>C, NM_001251979.2:c.473A>C, NM_001251979.1:c.473A>C, NM_001251981.2:c.299A>C, NM_001251981.1:c.299A>C, NM_001251983.2:c.98A>C, NM_001251983.1:c.98A>C, NM_001251984.2:c.98A>C, NM_001251984.1:c.98A>C, NM_001251978.1:c.473A>C, NM_001251980.1:c.443A>C, NP_038469.1:p.Lys158Thr, NP_001238906.1:p.Lys158Thr, NP_001238908.1:p.Lys158Thr, NP_001238910.1:p.Lys100Thr, NP_001238912.1:p.Lys33Thr, NP_001238913.1:p.Lys33Thr, NP_001238907.1:p.Lys158Thr, NP_001238909.1:p.Lys148Thr

Select item 14503508835.

rs1450350883 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:24535204 (GRCh38)
1:24861694 (GRCh37)
Canonical SPDI:: NC_000001.11:24535203:TT:T
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.24535205del, NC_000001.10:g.24861695del, NM_013441.4:c.654del, NM_013441.3:c.654del, NM_001251977.2:c.654del, NM_001251977.1:c.654del, NM_001251979.2:c.654del, NM_001251979.1:c.654del, NM_001251981.2:c.480del, NM_001251981.1:c.480del, NM_001251983.2:c.279del, NM_001251983.1:c.279del, NM_001251984.2:c.279del, NM_001251984.1:c.279del, NM_001251978.1:c.654del, NM_001251980.1:c.624del, NM_001251982.1:c.482del, NM_001251985.1:c.308del, NP_038469.1:p.Ile218fs, NP_001238906.1:p.Ile218fs, NP_001238908.1:p.Ile218fs, NP_001238910.1:p.Ile160fs, NP_001238912.1:p.Ile93fs, NP_001238913.1:p.Ile93fs, NP_001238907.1:p.Ile218fs, NP_001238909.1:p.Ile208fs, NP_001238911.1:p.Leu161fs, NP_001238914.1:p.Leu103fs

Select item 14295741736.

rs1429574173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:24533237 (GRCh38)
1:24859727 (GRCh37)
Canonical SPDI:: NC_000001.11:24533236:T:A
Gene:: RCAN3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.24533237T>A, NC_000001.10:g.24859727T>A, NM_013441.4:c.524T>A, NM_013441.3:c.524T>A, NM_001251977.2:c.524T>A, NM_001251977.1:c.524T>A, NM_001251979.2:c.524T>A, NM_001251979.1:c.524T>A, NM_001251981.2:c.350T>A, NM_001251981.1:c.350T>A, NM_001251983.2:c.149T>A, NM_001251983.1:c.149T>A, NM_001251984.2:c.149T>A, NM_001251984.1:c.149T>A, NM_001251978.1:c.524T>A, NM_001251980.1:c.494T>A, NP_038469.1:p.Val175Asp, NP_001238906.1:p.Val175Asp, NP_001238908.1:p.Val175Asp, NP_001238910.1:p.Val117Asp, NP_001238912.1:p.Val50Asp, NP_001238913.1:p.Val50Asp, NP_001238907.1:p.Val175Asp, NP_001238909.1:p.Val165Asp

Select item 14263387737.

rs1426338773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:24535272 (GRCh38)
1:24861762 (GRCh37)
Canonical SPDI:: NC_000001.11:24535271:C:G
Gene:: RCAN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.24535272C>G, NC_000001.10:g.24861762C>G, NM_013441.4:c.721C>G, NM_013441.3:c.721C>G, NM_001251977.2:c.721C>G, NM_001251977.1:c.721C>G, NM_001251979.2:c.721C>G, NM_001251979.1:c.721C>G, NM_001251981.2:c.547C>G, NM_001251981.1:c.547C>G, NM_001251983.2:c.346C>G, NM_001251983.1:c.346C>G, NM_001251984.2:c.346C>G, NM_001251984.1:c.346C>G, NM_001251978.1:c.721C>G, NM_001251980.1:c.691C>G, NM_001251982.1:c.*27C>G, NM_001251985.1:c.*27C>G, NP_038469.1:p.Leu241Val, NP_001238906.1:p.Leu241Val, NP_001238908.1:p.Leu241Val, NP_001238910.1:p.Leu183Val, NP_001238912.1:p.Leu116Val, NP_001238913.1:p.Leu116Val, NP_001238907.1:p.Leu241Val, NP_001238909.1:p.Leu231Val

Select item 14238791588.

rs1423879158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:24533227 (GRCh38)
1:24859717 (GRCh37)
Canonical SPDI:: NC_000001.11:24533226:C:T
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000048/1 (ALFA)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.24533227C>T, NC_000001.10:g.24859717C>T, NM_013441.4:c.514C>T, NM_013441.3:c.514C>T, NM_001251977.2:c.514C>T, NM_001251977.1:c.514C>T, NM_001251979.2:c.514C>T, NM_001251979.1:c.514C>T, NM_001251981.2:c.340C>T, NM_001251981.1:c.340C>T, NM_001251983.2:c.139C>T, NM_001251983.1:c.139C>T, NM_001251984.2:c.139C>T, NM_001251984.1:c.139C>T, NM_001251978.1:c.514C>T, NM_001251980.1:c.484C>T, NP_038469.1:p.Leu172Phe, NP_001238906.1:p.Leu172Phe, NP_001238908.1:p.Leu172Phe, NP_001238910.1:p.Leu114Phe, NP_001238912.1:p.Leu47Phe, NP_001238913.1:p.Leu47Phe, NP_001238907.1:p.Leu172Phe, NP_001238909.1:p.Leu162Phe

Select item 14130983389.

rs1413098338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:24533247 (GRCh38)
1:24859737 (GRCh37)
Canonical SPDI:: NC_000001.11:24533246:G:T
Gene:: RCAN3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.24533247G>T, NC_000001.10:g.24859737G>T, NM_013441.4:c.534G>T, NM_013441.3:c.534G>T, NM_001251977.2:c.534G>T, NM_001251977.1:c.534G>T, NM_001251979.2:c.534G>T, NM_001251979.1:c.534G>T, NM_001251981.2:c.360G>T, NM_001251981.1:c.360G>T, NM_001251983.2:c.159G>T, NM_001251983.1:c.159G>T, NM_001251984.2:c.159G>T, NM_001251984.1:c.159G>T, NM_001251978.1:c.534G>T, NM_001251980.1:c.504G>T, NP_038469.1:p.Leu178Phe, NP_001238906.1:p.Leu178Phe, NP_001238908.1:p.Leu178Phe, NP_001238910.1:p.Leu120Phe, NP_001238912.1:p.Leu53Phe, NP_001238913.1:p.Leu53Phe, NP_001238907.1:p.Leu178Phe, NP_001238909.1:p.Leu168Phe

Select item 141011646310.

rs1410116463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:24535220 (GRCh38)
1:24861710 (GRCh37)
Canonical SPDI:: NC_000001.11:24535219:C:T
Gene:: RCAN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.24535220C>T, NC_000001.10:g.24861710C>T, NM_013441.4:c.669C>T, NM_013441.3:c.669C>T, NM_001251977.2:c.669C>T, NM_001251977.1:c.669C>T, NM_001251979.2:c.669C>T, NM_001251979.1:c.669C>T, NM_001251981.2:c.495C>T, NM_001251981.1:c.495C>T, NM_001251983.2:c.294C>T, NM_001251983.1:c.294C>T, NM_001251984.2:c.294C>T, NM_001251984.1:c.294C>T, NM_001251978.1:c.669C>T, NM_001251980.1:c.639C>T, NM_001251982.1:c.497C>T, NM_001251985.1:c.323C>T, NP_001238911.1:p.Ala166Val, NP_001238914.1:p.Ala108Val

Select item 140993634511.

rs1409936345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:24535235 (GRCh38)
1:24861725 (GRCh37)
Canonical SPDI:: NC_000001.11:24535234:C:G,NC_000001.11:24535234:C:T
Gene:: RCAN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.24535235C>G, NC_000001.11:g.24535235C>T, NC_000001.10:g.24861725C>G, NC_000001.10:g.24861725C>T, NM_013441.4:c.684C>G, NM_013441.4:c.684C>T, NM_013441.3:c.684C>G, NM_013441.3:c.684C>T, NM_001251977.2:c.684C>G, NM_001251977.2:c.684C>T, NM_001251977.1:c.684C>G, NM_001251977.1:c.684C>T, NM_001251979.2:c.684C>G, NM_001251979.2:c.684C>T, NM_001251979.1:c.684C>G, NM_001251979.1:c.684C>T, NM_001251981.2:c.510C>G, NM_001251981.2:c.510C>T, NM_001251981.1:c.510C>G, NM_001251981.1:c.510C>T, NM_001251983.2:c.309C>G, NM_001251983.2:c.309C>T, NM_001251983.1:c.309C>G, NM_001251983.1:c.309C>T, NM_001251984.2:c.309C>G, NM_001251984.2:c.309C>T, NM_001251984.1:c.309C>G, NM_001251984.1:c.309C>T, NM_001251978.1:c.684C>G, NM_001251978.1:c.684C>T, NM_001251980.1:c.654C>G, NM_001251980.1:c.654C>T, NM_001251982.1:c.512C>G, NM_001251982.1:c.512C>T, NM_001251985.1:c.338C>G, NM_001251985.1:c.338C>T, NP_001238911.1:p.Pro171Arg, NP_001238911.1:p.Pro171Leu, NP_001238914.1:p.Pro113Arg, NP_001238914.1:p.Pro113Leu

Select item 139195120012.

rs1391951200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:24535271 (GRCh38)
1:24861761 (GRCh37)
Canonical SPDI:: NC_000001.11:24535270:G:A,NC_000001.11:24535270:G:T
Gene:: RCAN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.24535271G>A, NC_000001.11:g.24535271G>T, NC_000001.10:g.24861761G>A, NC_000001.10:g.24861761G>T, NM_013441.4:c.720G>A, NM_013441.4:c.720G>T, NM_013441.3:c.720G>A, NM_013441.3:c.720G>T, NM_001251977.2:c.720G>A, NM_001251977.2:c.720G>T, NM_001251977.1:c.720G>A, NM_001251977.1:c.720G>T, NM_001251979.2:c.720G>A, NM_001251979.2:c.720G>T, NM_001251979.1:c.720G>A, NM_001251979.1:c.720G>T, NM_001251981.2:c.546G>A, NM_001251981.2:c.546G>T, NM_001251981.1:c.546G>A, NM_001251981.1:c.546G>T, NM_001251983.2:c.345G>A, NM_001251983.2:c.345G>T, NM_001251983.1:c.345G>A, NM_001251983.1:c.345G>T, NM_001251984.2:c.345G>A, NM_001251984.2:c.345G>T, NM_001251984.1:c.345G>A, NM_001251984.1:c.345G>T, NM_001251978.1:c.720G>A, NM_001251978.1:c.720G>T, NM_001251980.1:c.690G>A, NM_001251980.1:c.690G>T, NM_001251982.1:c.*26G>A, NM_001251982.1:c.*26G>T, NM_001251985.1:c.*26G>A, NM_001251985.1:c.*26G>T

Select item 138807495713.

rs1388074957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:24535171 (GRCh38)
1:24861661 (GRCh37)
Canonical SPDI:: NC_000001.11:24535170:A:G
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.24535171A>G, NC_000001.10:g.24861661A>G, NM_013441.4:c.620A>G, NM_013441.3:c.620A>G, NM_001251977.2:c.620A>G, NM_001251977.1:c.620A>G, NM_001251979.2:c.620A>G, NM_001251979.1:c.620A>G, NM_001251981.2:c.446A>G, NM_001251981.1:c.446A>G, NM_001251983.2:c.245A>G, NM_001251983.1:c.245A>G, NM_001251984.2:c.245A>G, NM_001251984.1:c.245A>G, NM_001251978.1:c.620A>G, NM_001251980.1:c.590A>G, NM_001251982.1:c.448A>G, NM_001251985.1:c.274A>G, NP_038469.1:p.Glu207Gly, NP_001238906.1:p.Glu207Gly, NP_001238908.1:p.Glu207Gly, NP_001238910.1:p.Glu149Gly, NP_001238912.1:p.Glu82Gly, NP_001238913.1:p.Glu82Gly, NP_001238907.1:p.Glu207Gly, NP_001238909.1:p.Glu197Gly, NP_001238911.1:p.Arg150Gly, NP_001238914.1:p.Arg92Gly

Select item 137472519814.

rs1374725198 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:24533149 (GRCh38)
1:24859639 (GRCh37)
Canonical SPDI:: NC_000001.11:24533146:TCCTC:TC
Gene:: RCAN3 (Varview)
Functional Consequence:: intron_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.24533149_24533151del, NC_000001.10:g.24859639_24859641del, NM_013441.4:c.436_438del, NM_013441.3:c.436_438del, NM_001251977.2:c.436_438del, NM_001251977.1:c.436_438del, NM_001251979.2:c.436_438del, NM_001251979.1:c.436_438del, NM_001251981.2:c.262_264del, NM_001251981.1:c.262_264del, NM_001251983.2:c.61_63del, NM_001251983.1:c.61_63del, NM_001251984.2:c.61_63del, NM_001251984.1:c.61_63del, NM_001251978.1:c.436_438del, NM_001251980.1:c.406_408del, NP_038469.1:p.Leu146del, NP_001238906.1:p.Leu146del, NP_001238908.1:p.Leu146del, NP_001238910.1:p.Leu88del, NP_001238912.1:p.Leu21del, NP_001238913.1:p.Leu21del, NP_001238907.1:p.Leu146del, NP_001238909.1:p.Leu136del

Select item 136843025015.

rs1368430250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:24533180 (GRCh38)
1:24859670 (GRCh37)
Canonical SPDI:: NC_000001.11:24533179:G:C
Gene:: RCAN3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.24533180G>C, NC_000001.10:g.24859670G>C, NM_013441.4:c.467G>C, NM_013441.3:c.467G>C, NM_001251977.2:c.467G>C, NM_001251977.1:c.467G>C, NM_001251979.2:c.467G>C, NM_001251979.1:c.467G>C, NM_001251981.2:c.293G>C, NM_001251981.1:c.293G>C, NM_001251983.2:c.92G>C, NM_001251983.1:c.92G>C, NM_001251984.2:c.92G>C, NM_001251984.1:c.92G>C, NM_001251978.1:c.467G>C, NM_001251980.1:c.437G>C, NP_038469.1:p.Gly156Ala, NP_001238906.1:p.Gly156Ala, NP_001238908.1:p.Gly156Ala, NP_001238910.1:p.Gly98Ala, NP_001238912.1:p.Gly31Ala, NP_001238913.1:p.Gly31Ala, NP_001238907.1:p.Gly156Ala, NP_001238909.1:p.Gly146Ala

Select item 136718276916.

rs1367182769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:24535114 (GRCh38)
1:24861604 (GRCh37)
Canonical SPDI:: NC_000001.11:24535113:C:T
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.24535114C>T, NC_000001.10:g.24861604C>T, NM_013441.4:c.563C>T, NM_013441.3:c.563C>T, NM_001251977.2:c.563C>T, NM_001251977.1:c.563C>T, NM_001251979.2:c.563C>T, NM_001251979.1:c.563C>T, NM_001251981.2:c.389C>T, NM_001251981.1:c.389C>T, NM_001251983.2:c.188C>T, NM_001251983.1:c.188C>T, NM_001251984.2:c.188C>T, NM_001251984.1:c.188C>T, NM_001251978.1:c.563C>T, NM_001251980.1:c.533C>T, NM_001251982.1:c.391C>T, NM_001251985.1:c.217C>T, NP_038469.1:p.Ala188Val, NP_001238906.1:p.Ala188Val, NP_001238908.1:p.Ala188Val, NP_001238910.1:p.Ala130Val, NP_001238912.1:p.Ala63Val, NP_001238913.1:p.Ala63Val, NP_001238907.1:p.Ala188Val, NP_001238909.1:p.Ala178Val, NP_001238911.1:p.Arg131Trp, NP_001238914.1:p.Arg73Trp

Select item 135474972717.

rs1354749727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:24533093 (GRCh38)
1:24859583 (GRCh37)
Canonical SPDI:: NC_000001.11:24533092:C:T
Gene:: RCAN3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.24533093C>T, NC_000001.10:g.24859583C>T, NM_013441.4:c.380C>T, NM_013441.3:c.380C>T, NM_001251977.2:c.380C>T, NM_001251977.1:c.380C>T, NM_001251979.2:c.380C>T, NM_001251979.1:c.380C>T, NM_001251981.2:c.206C>T, NM_001251981.1:c.206C>T, NM_001251983.2:c.5C>T, NM_001251983.1:c.5C>T, NM_001251984.2:c.5C>T, NM_001251984.1:c.5C>T, NM_001251978.1:c.380C>T, NP_038469.1:p.Ser127Phe, NP_001238906.1:p.Ser127Phe, NP_001238908.1:p.Ser127Phe, NP_001238910.1:p.Ser69Phe, NP_001238912.1:p.Ser2Phe, NP_001238913.1:p.Ser2Phe, NP_001238907.1:p.Ser127Phe

Select item 134687247018.

rs1346872470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:24535175 (GRCh38)
1:24861665 (GRCh37)
Canonical SPDI:: NC_000001.11:24535174:A:G
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
HGVS:: NC_000001.11:g.24535175A>G, NC_000001.10:g.24861665A>G, NM_013441.4:c.624A>G, NM_013441.3:c.624A>G, NM_001251977.2:c.624A>G, NM_001251977.1:c.624A>G, NM_001251979.2:c.624A>G, NM_001251979.1:c.624A>G, NM_001251981.2:c.450A>G, NM_001251981.1:c.450A>G, NM_001251983.2:c.249A>G, NM_001251983.1:c.249A>G, NM_001251984.2:c.249A>G, NM_001251984.1:c.249A>G, NM_001251978.1:c.624A>G, NM_001251980.1:c.594A>G, NM_001251982.1:c.452A>G, NM_001251985.1:c.278A>G, NP_001238911.1:p.Lys151Arg, NP_001238914.1:p.Lys93Arg

Select item 133420962819.

rs1334209628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:24533131 (GRCh38)
1:24859621 (GRCh37)
Canonical SPDI:: NC_000001.11:24533130:C:T
Gene:: RCAN3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.24533131C>T, NC_000001.10:g.24859621C>T, NM_013441.4:c.418C>T, NM_013441.3:c.418C>T, NM_001251977.2:c.418C>T, NM_001251977.1:c.418C>T, NM_001251979.2:c.418C>T, NM_001251979.1:c.418C>T, NM_001251981.2:c.244C>T, NM_001251981.1:c.244C>T, NM_001251983.2:c.43C>T, NM_001251983.1:c.43C>T, NM_001251984.2:c.43C>T, NM_001251984.1:c.43C>T, NM_001251978.1:c.418C>T, NM_001251980.1:c.388C>T, NP_038469.1:p.Gln140Ter, NP_001238906.1:p.Gln140Ter, NP_001238908.1:p.Gln140Ter, NP_001238910.1:p.Gln82Ter, NP_001238912.1:p.Gln15Ter, NP_001238913.1:p.Gln15Ter, NP_001238907.1:p.Gln140Ter, NP_001238909.1:p.Gln130Ter

Select item 132790870120.

rs1327908701 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACAGAAAATTGCCCAGACGAGGCGCCCCGACCCTCCGACCGCA>- [Show Flanks]
Chromosome:: 1:24535195 (GRCh38)
1:24861685 (GRCh37)
Canonical SPDI:: NC_000001.11:24535192:CAAACAGAAAATTGCCCAGACGAGGCGCCCCGACCCTCCGACCGCA:CA
Gene:: RCAN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.24535195_24535238del, NC_000001.10:g.24861685_24861728del, NM_013441.4:c.644_687del, NM_013441.3:c.644_687del, NM_001251977.2:c.644_687del, NM_001251977.1:c.644_687del, NM_001251979.2:c.644_687del, NM_001251979.1:c.644_687del, NM_001251981.2:c.470_513del, NM_001251981.1:c.470_513del, NM_001251983.2:c.269_312del, NM_001251983.1:c.269_312del, NM_001251984.2:c.269_312del, NM_001251984.1:c.269_312del, NM_001251978.1:c.644_687del, NM_001251980.1:c.614_657del, NM_001251982.1:c.472_515del, NM_001251985.1:c.298_341del, NP_038469.1:p.Lys215fs, NP_001238906.1:p.Lys215fs, NP_001238908.1:p.Lys215fs, NP_001238910.1:p.Lys157fs, NP_001238912.1:p.Lys90fs, NP_001238913.1:p.Lys90fs, NP_001238907.1:p.Lys215fs, NP_001238909.1:p.Lys205fs, NP_001238911.1:p.Asn158fs, NP_001238914.1:p.Asn100fs

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Items: 1 to 20 of 137

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