Canonical Allele Identifier: CA3981684

Gene: GJA1

Linked Data

• dbSNP Id: rs771460977
• ExAC: 6:121768398 C / T
• gnomAD v2: 6-121768398-C-T
• gnomAD v3: 6-121447252-C-T
• gnomAD v4: 6-121447252-C-T
• MyVariant Identifiers: chr6:g.121768398C>T (hg19) ; chr6:g.121447252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447252C>T , CM000668.2:g.121447252C>T	GRCh38
NC_000006.11:g.121768398C>T , CM000668.1:g.121768398C>T	GRCh37
NC_000006.10:g.121810097C>T	NCBI36
NG_008308.1:g.16654C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282561.4:c.405C>T MANE Select	ENSP00000282561.3:p.Phe135=
ENST00000647564.1:c.405C>T	ENSP00000497565.1:p.Phe135=
ENST00000649003.1:c.405C>T	ENSP00000497283.1:p.Phe135=
ENST00000650427.1:c.405C>T	ENSP00000497367.1:p.Phe135=
ENST00000282561.3:c.405C>T	ENSP00000282561.3:p.Phe135=
NM_000165.4:c.405C>T	NP_000156.1:p.Phe135=
NM_000165.5:c.405C>T MANE Select	NP_000156.1:p.Phe135=