Canonical Allele Identifier: CA10625774
Gene: GJA1 HGNC NCBI
ClinVar RCV:
RCV000308917
RCV000345504
RCV000394994
ClinVar Variation:
355165
dbSNP:
72548742
gnomAD v2:
6:121769261 T / C
gnomAD v3:
6:121448115 T / C
gnomAD v4:
chr6-121448115-T-C
Joint Max Group AF 0.0015128 (NFE)
Genomes Max Group AF 0.00114188 (NFE)
Exomes Max Group AF 0.0015385 (NFE)
MyVariant.info:
GRCh38 chr6:g.121448115T>C
GRCh37 chr6:g.121769261T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121448115T>C , CM000668.2:g.121448115T>C GRCh38
NC_000006.11:g.121769261T>C , CM000668.1:g.121769261T>C GRCh37
NC_000006.10:g.121810960T>C NCBI36
NG_008308.1:g.17517T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.*119T>C MANE Select ENSP00000282561.3:n.*119T>C
ENST00000647564.1:c.*119T>C ENSP00000497565.1:n.*119T>C
ENST00000649003.1:c.*119T>C ENSP00000497283.1:n.*119T>C
ENST00000650427.1:c.*119T>C ENSP00000497367.1:n.*119T>C
ENST00000282561.3:c.*119T>C ENSP00000282561.3:n.*119T>C
NM_000165.4:c.*119T>C NP_000156.1:n.*119T>C
NM_000165.5:c.*119T>C MANE Select NP_000156.1:n.*119T>C
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