Canonical Allele Identifier: CA365557831
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1386157776
gnomAD v2: 6-121768052-C-T
gnomAD v4: 6-121446906-C-T
MyVariant Identifiers: chr6:g.121768052C>T (hg19) chr6:g.121446906C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446906C>T , CM000668.2:g.121446906C>T GRCh38
NC_000006.11:g.121768052C>T , CM000668.1:g.121768052C>T GRCh37
NC_000006.10:g.121809751C>T NCBI36
NG_008308.1:g.16308C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.59C>T MANE Select ENSP00000282561.3:p.Ala20Val
ENST00000647564.1:c.59C>T ENSP00000497565.1:p.Ala20Val
ENST00000649003.1:c.59C>T ENSP00000497283.1:p.Ala20Val
ENST00000650427.1:c.59C>T ENSP00000497367.1:p.Ala20Val
ENST00000282561.3:c.59C>T ENSP00000282561.3:p.Ala20Val
NM_000165.4:c.59C>T NP_000156.1:p.Ala20Val
NM_000165.5:c.59C>T MANE Select NP_000156.1:p.Ala20Val
Search 100 bp 5'
Search 100 bp 3'