Canonical Allele Identifier: CA452134223
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306738
ClinVar RCV Id: RCV001770918
dbSNP Id: rs1282411388
gnomAD v3: 6-121447048-C-T
gnomAD v4: 6-121447048-C-T
MyVariant Identifiers: chr6:g.121768194C>T (hg19) chr6:g.121447048C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447048C>T , CM000668.2:g.121447048C>T GRCh38
NC_000006.11:g.121768194C>T , CM000668.1:g.121768194C>T GRCh37
NC_000006.10:g.121809893C>T NCBI36
NG_008308.1:g.16450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.201C>T MANE Select ENSP00000282561.3:p.Asp67=
ENST00000647564.1:c.201C>T ENSP00000497565.1:p.Asp67=
ENST00000649003.1:c.201C>T ENSP00000497283.1:p.Asp67=
ENST00000650427.1:c.201C>T ENSP00000497367.1:p.Asp67=
ENST00000282561.3:c.201C>T ENSP00000282561.3:p.Asp67=
NM_000165.4:c.201C>T NP_000156.1:p.Asp67=
NM_000165.5:c.201C>T MANE Select NP_000156.1:p.Asp67=
Search 100 bp 5'
Search 100 bp 3'