SNP Links for Protein (Select 40255133) - SNP

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Links from Protein

Items: 1 to 20 of 943

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Select item 14902857131.

rs1490285713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106001561 (GRCh38)
7:105642007 (GRCh37)
Canonical SPDI:: NC_000007.14:106001560:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106001561C>T, NC_000007.13:g.105642007C>T, NM_152750.5:c.813C>T, NM_152750.4:c.813C>T, NM_001301161.2:c.549C>T, NM_001301161.1:c.549C>T

Select item 14897885682.

rs1489788568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:105996280 (GRCh38)
7:105636726 (GRCh37)
Canonical SPDI:: NC_000007.14:105996279:T:C
Gene:: CDHR3 (Varview), LOC107986833 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.105996280T>C, NC_000007.13:g.105636726T>C, NM_152750.5:c.639T>C, NM_152750.4:c.639T>C, NM_001301161.2:c.375T>C, NM_001301161.1:c.375T>C

Select item 14888729603.

rs1488872960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:106012977 (GRCh38)
7:105653423 (GRCh37)
Canonical SPDI:: NC_000007.14:106012976:A:G
Gene:: CDHR3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106012977A>G, NC_000007.13:g.105653423A>G, NM_152750.5:c.1170A>G, NM_152750.4:c.1170A>G, NM_001301161.2:c.906A>G, NM_001301161.1:c.906A>G

Select item 14883389204.

rs1488338920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106024527 (GRCh38)
7:105664973 (GRCh37)
Canonical SPDI:: NC_000007.14:106024526:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106024527C>T, NC_000007.13:g.105664973C>T, NM_152750.5:c.2223C>T, NM_152750.4:c.2223C>T, NM_001301161.2:c.1959C>T, NM_001301161.1:c.1959C>T

Select item 14870538925.

rs1487053892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106017890 (GRCh38)
7:105658336 (GRCh37)
Canonical SPDI:: NC_000007.14:106017889:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.106017890C>T, NC_000007.13:g.105658336C>T, NM_152750.5:c.1471C>T, NM_152750.4:c.1471C>T, NM_001301161.2:c.1207C>T, NM_001301161.1:c.1207C>T, NP_689963.2:p.Pro491Ser, NP_001288090.1:p.Pro403Ser

Select item 14868386516.

rs1486838651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:105974853 (GRCh38)
7:105615299 (GRCh37)
Canonical SPDI:: NC_000007.14:105974852:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.105974853C>T, NC_000007.13:g.105615299C>T, NM_152750.5:c.56C>T, NM_152750.4:c.56C>T, NP_689963.2:p.Ala19Val

Select item 14866122717.

rs1486612271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106013012 (GRCh38)
7:105653458 (GRCh37)
Canonical SPDI:: NC_000007.14:106013011:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106013012C>T, NC_000007.13:g.105653458C>T, NM_152750.5:c.1205C>T, NM_152750.4:c.1205C>T, NM_001301161.2:c.941C>T, NM_001301161.1:c.941C>T, NP_689963.2:p.Ala402Val, NP_001288090.1:p.Ala314Val

Select item 14861100278.

rs1486110027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:106032624 (GRCh38)
7:105673070 (GRCh37)
Canonical SPDI:: NC_000007.14:106032623:A:T
Gene:: CDHR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106032624A>T, NC_000007.13:g.105673070A>T, NM_152750.5:c.2585A>T, NM_152750.4:c.2585A>T, NM_001301161.2:c.2321A>T, NM_001301161.1:c.2321A>T, NP_689963.2:p.Lys862Met, NP_001288090.1:p.Lys774Met

Select item 14853355719.

rs1485335571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:106024518 (GRCh38)
7:105664964 (GRCh37)
Canonical SPDI:: NC_000007.14:106024517:C:A,NC_000007.14:106024517:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.106024518C>A, NC_000007.14:g.106024518C>T, NC_000007.13:g.105664964C>A, NC_000007.13:g.105664964C>T, NM_152750.5:c.2214C>A, NM_152750.5:c.2214C>T, NM_152750.4:c.2214C>A, NM_152750.4:c.2214C>T, NM_001301161.2:c.1950C>A, NM_001301161.2:c.1950C>T, NM_001301161.1:c.1950C>A, NM_001301161.1:c.1950C>T

Select item 148505099210.

rs1485050992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106028563 (GRCh38)
7:105669009 (GRCh37)
Canonical SPDI:: NC_000007.14:106028562:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106028563C>T, NC_000007.13:g.105669009C>T, NM_152750.5:c.2285C>T, NM_152750.4:c.2285C>T, NM_001301161.2:c.2021C>T, NM_001301161.1:c.2021C>T, NP_689963.2:p.Ala762Val, NP_001288090.1:p.Ala674Val

Select item 148378511211.

rs1483785112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:106022319 (GRCh38)
7:105662765 (GRCh37)
Canonical SPDI:: NC_000007.14:106022318:T:C
Gene:: CDHR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106022319T>C, NC_000007.13:g.105662765T>C, NM_152750.5:c.1947T>C, NM_152750.4:c.1947T>C, NM_001301161.2:c.1683T>C, NM_001301161.1:c.1683T>C

Select item 148259561512.

rs1482595615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:105981063 (GRCh38)
7:105621509 (GRCh37)
Canonical SPDI:: NC_000007.14:105981062:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.105981063C>T, NC_000007.13:g.105621509C>T, NM_152750.5:c.345C>T, NM_152750.4:c.345C>T, NM_001301161.2:c.81C>T, NM_001301161.1:c.81C>T

Select item 148171501313.

rs1481715013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:105974949 (GRCh38)
7:105615395 (GRCh37)
Canonical SPDI:: NC_000007.14:105974948:C:T
Gene:: CDHR3 (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=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.105974949C>T, NC_000007.13:g.105615395C>T, NM_152750.5:c.152C>T, NM_152750.4:c.152C>T, NP_689963.2:p.Ser51Leu

Select item 148030844914.

rs1480308449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106015993 (GRCh38)
7:105656439 (GRCh37)
Canonical SPDI:: NC_000007.14:106015992:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.106015993C>T, NC_000007.13:g.105656439C>T, NM_152750.5:c.1394C>T, NM_152750.4:c.1394C>T, NM_001301161.2:c.1130C>T, NM_001301161.1:c.1130C>T, NP_689963.2:p.Ser465Phe, NP_001288090.1:p.Ser377Phe

Select item 148023376815.

rs1480233768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106024525 (GRCh38)
7:105664971 (GRCh37)
Canonical SPDI:: NC_000007.14:106024524:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.106024525C>T, NC_000007.13:g.105664971C>T, NM_152750.5:c.2221C>T, NM_152750.4:c.2221C>T, NM_001301161.2:c.1957C>T, NM_001301161.1:c.1957C>T, NP_689963.2:p.His741Tyr, NP_001288090.1:p.His653Tyr

Select item 147960074916.

rs1479600749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106030796 (GRCh38)
7:105671242 (GRCh37)
Canonical SPDI:: NC_000007.14:106030795:C:T
Gene:: CDHR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.106030796C>T, NC_000007.13:g.105671242C>T, NM_152750.5:c.2309C>T, NM_152750.4:c.2309C>T, NM_001301161.2:c.2045C>T, NM_001301161.1:c.2045C>T, NP_689963.2:p.Thr770Ile, NP_001288090.1:p.Thr682Ile

Select item 147927772017.

rs1479277720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:106032394 (GRCh38)
7:105672840 (GRCh37)
Canonical SPDI:: NC_000007.14:106032393:G:A,NC_000007.14:106032393:G:T
Gene:: CDHR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106032394G>A, NC_000007.14:g.106032394G>T, NC_000007.13:g.105672840G>A, NC_000007.13:g.105672840G>T, NM_152750.5:c.2355G>A, NM_152750.5:c.2355G>T, NM_152750.4:c.2355G>A, NM_152750.4:c.2355G>T, NM_001301161.2:c.2091G>A, NM_001301161.2:c.2091G>T, NM_001301161.1:c.2091G>A, NM_001301161.1:c.2091G>T

Select item 147807131918.

rs1478071319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:106017964 (GRCh38)
7:105658410 (GRCh37)
Canonical SPDI:: NC_000007.14:106017963:T:A,NC_000007.14:106017963:T:C
Gene:: CDHR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106017964T>A, NC_000007.14:g.106017964T>C, NC_000007.13:g.105658410T>A, NC_000007.13:g.105658410T>C, NM_152750.5:c.1545T>A, NM_152750.5:c.1545T>C, NM_152750.4:c.1545T>A, NM_152750.4:c.1545T>C, NM_001301161.2:c.1281T>A, NM_001301161.2:c.1281T>C, NM_001301161.1:c.1281T>A, NM_001301161.1:c.1281T>C, NP_689963.2:p.Asn515Lys, NP_001288090.1:p.Asn427Lys

Select item 147751883119.

rs1477518831 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:106032532 (GRCh38)
7:105672979 (GRCh37)
Canonical SPDI:: NC_000007.14:106032532:T:TT
Gene:: CDHR3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.106032533dup, NC_000007.13:g.105672979dup, NM_152750.5:c.2494dup, NM_152750.4:c.2494dup, NM_001301161.2:c.2230dup, NM_001301161.1:c.2230dup, NP_689963.2:p.Ser832fs, NP_001288090.1:p.Ser744fs

Select item 147710286020.

rs1477102860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:105974847 (GRCh38)
7:105615293 (GRCh37)
Canonical SPDI:: NC_000007.14:105974846:G:A
Gene:: CDHR3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000007.14:g.105974847G>A, NC_000007.13:g.105615293G>A, NM_152750.5:c.50G>A, NM_152750.4:c.50G>A, NP_689963.2:p.Gly17Glu

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