Canonical Allele Identifier: CA3981667
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1974849
ClinVar RCV Id: RCV002765825
dbSNP Id: rs766836780
ExAC: 6:121768257 C / T
gnomAD v2: 6-121768257-C-T
gnomAD v4: 6-121447111-C-T
MyVariant Identifiers: chr6:g.121768257C>T (hg19) chr6:g.121447111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447111C>T , CM000668.2:g.121447111C>T GRCh38
NC_000006.11:g.121768257C>T , CM000668.1:g.121768257C>T GRCh37
NC_000006.10:g.121809956C>T NCBI36
NG_008308.1:g.16513C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.264C>T MANE Select ENSP00000282561.3:p.Pro88=
ENST00000647564.1:c.264C>T ENSP00000497565.1:p.Pro88=
ENST00000649003.1:c.264C>T ENSP00000497283.1:p.Pro88=
ENST00000650427.1:c.264C>T ENSP00000497367.1:p.Pro88=
ENST00000282561.3:c.264C>T ENSP00000282561.3:p.Pro88=
NM_000165.4:c.264C>T NP_000156.1:p.Pro88=
NM_000165.5:c.264C>T MANE Select NP_000156.1:p.Pro88=
Search 100 bp 5'
Search 100 bp 3'