SNP Links for Protein (Select 193211395) - SNP

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Links from Protein

Items: 1 to 20 of 400

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Select item 14876180101.

rs1487618010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:103473667 (GRCh38)
10:105233424 (GRCh37)
Canonical SPDI:: NC_000010.11:103473666:G:A,NC_000010.11:103473666:G:T
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.103473667G>A, NC_000010.11:g.103473667G>T, NC_000010.10:g.105233424G>A, NC_000010.10:g.105233424G>T, NM_001129742.2:c.581C>T, NM_001129742.2:c.581C>A, NM_001129742.1:c.581C>T, NM_001129742.1:c.581C>A, NM_182494.1:c.581C>T, NM_182494.1:c.581C>A, NP_001123214.1:p.Ala194Val, NP_001123214.1:p.Ala194Glu

Select item 14835637982.

rs1483563798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:103473247 (GRCh38)
10:105233004 (GRCh37)
Canonical SPDI:: NC_000010.11:103473246:A:C
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103473247A>C, NC_000010.10:g.105233004A>C, NM_001129742.2:c.1001T>G, NM_001129742.1:c.1001T>G, NM_182494.1:c.1019T>G, NP_001123214.1:p.Leu334Arg

Select item 14830453783.

rs1483045378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103473681 (GRCh38)
10:105233438 (GRCh37)
Canonical SPDI:: NC_000010.11:103473680:C:T
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.103473681C>T, NC_000010.10:g.105233438C>T, NM_001129742.2:c.567G>A, NM_001129742.1:c.567G>A, NM_182494.1:c.567G>A

Select item 14819495564.

rs1481949556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103476314 (GRCh38)
10:105236071 (GRCh37)
Canonical SPDI:: NC_000010.11:103476313:A:G
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.103476314A>G, NC_000010.10:g.105236071A>G, NM_001129742.2:c.523T>C, NM_001129742.1:c.523T>C, NM_182494.1:c.523T>C, NP_001123214.1:p.Tyr175His

Select item 14807369165.

rs1480736916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:103473613 (GRCh38)
10:105233370 (GRCh37)
Canonical SPDI:: NC_000010.11:103473612:T:G
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.103473613T>G, NC_000010.10:g.105233370T>G, NM_001129742.2:c.635A>C, NM_001129742.1:c.635A>C, NM_182494.1:c.635A>C, NP_001123214.1:p.Gln212Pro

Select item 14804472876.

rs1480447287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103478950 (GRCh38)
10:105238707 (GRCh37)
Canonical SPDI:: NC_000010.11:103478949:G:A
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.103478950G>A, NC_000010.10:g.105238707G>A, NM_001129742.2:c.83C>T, NM_001129742.1:c.83C>T, NM_182494.1:c.83C>T, NP_001123214.1:p.Ala28Val

Select item 14788494007.

rs1478849400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:103473413 (GRCh38)
10:105233170 (GRCh37)
Canonical SPDI:: NC_000010.11:103473412:C:A
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103473413C>A, NC_000010.10:g.105233170C>A, NM_001129742.2:c.835G>T, NM_001129742.1:c.835G>T, NM_182494.1:c.853G>T, NP_001123214.1:p.Gly279Cys

Select item 14745980378.

rs1474598037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:103478946 (GRCh38)
10:105238703 (GRCh37)
Canonical SPDI:: NC_000010.11:103478945:G:C
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
C=0.0005/1 (Korea1K)
HGVS:: NC_000010.11:g.103478946G>C, NC_000010.10:g.105238703G>C, NM_001129742.2:c.87C>G, NM_001129742.1:c.87C>G, NM_182494.1:c.87C>G

Select item 14716168499.

rs1471616849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:103476524 (GRCh38)
10:105236281 (GRCh37)
Canonical SPDI:: NC_000010.11:103476523:T:C
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103476524T>C, NC_000010.10:g.105236281T>C, NM_001129742.2:c.313A>G, NM_001129742.1:c.313A>G, NM_182494.1:c.313A>G, NP_001123214.1:p.Arg105Gly

Select item 147156779110.

rs1471567791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:103473420 (GRCh38)
10:105233177 (GRCh37)
Canonical SPDI:: NC_000010.11:103473419:G:A,NC_000010.11:103473419:G:C
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000010.11:g.103473420G>A, NC_000010.11:g.103473420G>C, NC_000010.10:g.105233177G>A, NC_000010.10:g.105233177G>C, NM_001129742.2:c.828C>T, NM_001129742.2:c.828C>G, NM_001129742.1:c.828C>T, NM_001129742.1:c.828C>G, NM_182494.1:c.828C>T, NM_182494.1:c.828C>G

Select item 146832213111.

rs1468322131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTTCAGGCACTGCGGGG [Show Flanks]
Chromosome:: 10:103473423 (GRCh38)
10:105233181 (GRCh37)
Canonical SPDI:: NC_000010.11:103473423:TCAGGCACTGCGGGG:TCAGGCACTGCGGGGGGTTCAGGCACTGCGGGG
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: TCAGGCACTGCGGGGGGTTCAGGCACTGCGGGG=0./0 (ALFA)
TCAGGCACTGCGGGGGGT=0.000004/1 (TOPMED)
TCAGGCACTGCGGGGGGT=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.103473438_103473439insGGTTCAGGCACTGCGGGG, NC_000010.10:g.105233195_105233196insGGTTCAGGCACTGCGGGG, NM_001129742.2:c.824_825insACCCCCCGCAGTGCCTGA, NM_001129742.1:c.824_825insACCCCCCGCAGTGCCTGA, NM_182494.1:c.824_825insACCCCCCGCAGTGCCTGA, NP_001123214.1:p.Ala272_Pro277dup

Select item 146509912612.

rs1465099126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103473405 (GRCh38)
10:105233162 (GRCh37)
Canonical SPDI:: NC_000010.11:103473404:A:G
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000025/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103473405A>G, NC_000010.10:g.105233162A>G, NM_001129742.2:c.843T>C, NM_001129742.1:c.843T>C, NM_182494.1:c.861T>C

Select item 146500639413.

rs1465006394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103473576 (GRCh38)
10:105233333 (GRCh37)
Canonical SPDI:: NC_000010.11:103473575:C:T
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103473576C>T, NC_000010.10:g.105233333C>T, NM_001129742.2:c.672G>A, NM_001129742.1:c.672G>A, NM_182494.1:c.672G>A

Select item 146264718614.

rs1462647186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103473564 (GRCh38)
10:105233321 (GRCh37)
Canonical SPDI:: NC_000010.11:103473563:G:A
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.103473564G>A, NC_000010.10:g.105233321G>A, NM_001129742.2:c.684C>T, NM_001129742.1:c.684C>T, NM_182494.1:c.684C>T

Select item 146114681115.

rs1461146811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:103473423 (GRCh38)
10:105233180 (GRCh37)
Canonical SPDI:: NC_000010.11:103473422:C:A
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103473423C>A, NC_000010.10:g.105233180C>A, NM_001129742.2:c.825G>T, NM_001129742.1:c.825G>T, NM_182494.1:c.825G>T, NP_001123214.1:p.Glu275Asp

Select item 145850838516.

rs1458508385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103473642 (GRCh38)
10:105233399 (GRCh37)
Canonical SPDI:: NC_000010.11:103473641:C:T
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103473642C>T, NC_000010.10:g.105233399C>T, NM_001129742.2:c.606G>A, NM_001129742.1:c.606G>A, NM_182494.1:c.606G>A

Select item 145778892817.

rs1457788928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:103478954 (GRCh38)
10:105238711 (GRCh37)
Canonical SPDI:: NC_000010.11:103478953:C:G
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103478954C>G, NC_000010.10:g.105238711C>G, NM_001129742.2:c.79G>C, NM_001129742.1:c.79G>C, NM_182494.1:c.79G>C, NP_001123214.1:p.Ala27Pro

Select item 145733768718.

rs1457337687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:103478947 (GRCh38)
10:105238705 (GRCh37)
Canonical SPDI:: NC_000010.11:103478947:CC:CCC
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.103478949dup, NC_000010.10:g.105238706dup, NM_001129742.2:c.85dup, NM_001129742.1:c.85dup, NM_182494.1:c.85dup, NP_001123214.1:p.Val29fs

Select item 145603386919.

rs1456033869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:103473697 (GRCh38)
10:105233454 (GRCh37)
Canonical SPDI:: NC_000010.11:103473696:C:G,NC_000010.11:103473696:C:T
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
T=0.00005/7 (GnomAD)
T=0.000068/18 (TOPMED)
HGVS:: NC_000010.11:g.103473697C>G, NC_000010.11:g.103473697C>T, NC_000010.10:g.105233454C>G, NC_000010.10:g.105233454C>T, NM_001129742.2:c.551G>C, NM_001129742.2:c.551G>A, NM_001129742.1:c.551G>C, NM_001129742.1:c.551G>A, NM_182494.1:c.551G>C, NM_182494.1:c.551G>A, NP_001123214.1:p.Gly184Ala, NP_001123214.1:p.Gly184Asp

Select item 145565809720.

rs1455658097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103473356 (GRCh38)
10:105233113 (GRCh37)
Canonical SPDI:: NC_000010.11:103473355:C:T
Gene:: CALHM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.103473356C>T, NC_000010.10:g.105233113C>T, NM_001129742.2:c.892G>A, NM_001129742.1:c.892G>A, NM_182494.1:c.910G>A, NP_001123214.1:p.Val298Met

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