Canonical Allele Identifier: CA365559541
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2632485
ClinVar RCV Id: RCV003416839
dbSNP Id: rs1278010288
gnomAD v3: 6-121447523-A-G
gnomAD v4: 6-121447523-A-G
MyVariant Identifiers: chr6:g.121768669A>G (hg19) chr6:g.121447523A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447523A>G , CM000668.2:g.121447523A>G GRCh38
NC_000006.11:g.121768669A>G , CM000668.1:g.121768669A>G GRCh37
NC_000006.10:g.121810368A>G NCBI36
NG_008308.1:g.16925A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.676A>G MANE Select ENSP00000282561.3:p.Ile226Val
ENST00000647564.1:c.676A>G ENSP00000497565.1:p.Ile226Val
ENST00000649003.1:c.676A>G ENSP00000497283.1:p.Ile226Val
ENST00000650427.1:c.676A>G ENSP00000497367.1:p.Ile226Val
ENST00000282561.3:c.676A>G ENSP00000282561.3:p.Ile226Val
NM_000165.4:c.676A>G NP_000156.1:p.Ile226Val
NM_000165.5:c.676A>G MANE Select NP_000156.1:p.Ile226Val
Search 100 bp 5'
Search 100 bp 3'