Canonical Allele Identifier: CA3981687
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs767304985
ExAC: 6:121768440 G / A
gnomAD v2: 6-121768440-G-A
gnomAD v4: 6-121447294-G-A
MyVariant Identifiers: chr6:g.121768440G>A (hg19) chr6:g.121447294G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447294G>A , CM000668.2:g.121447294G>A GRCh38
NC_000006.11:g.121768440G>A , CM000668.1:g.121768440G>A GRCh37
NC_000006.10:g.121810139G>A NCBI36
NG_008308.1:g.16696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.447G>A MANE Select ENSP00000282561.3:p.Gly149=
ENST00000647564.1:c.447G>A ENSP00000497565.1:p.Gly149=
ENST00000649003.1:c.447G>A ENSP00000497283.1:p.Gly149=
ENST00000650427.1:c.447G>A ENSP00000497367.1:p.Gly149=
ENST00000282561.3:c.447G>A ENSP00000282561.3:p.Gly149=
NM_000165.4:c.447G>A NP_000156.1:p.Gly149=
NM_000165.5:c.447G>A MANE Select NP_000156.1:p.Gly149=
Search 100 bp 5'
Search 100 bp 3'