Canonical Allele Identifier: CA3981648

Gene: GJA1

Linked Data

• dbSNP Id: rs762380716
• ExAC: 6:121767968 T / G
• gnomAD v2: 6-121767968-T-G
• MyVariant Identifiers: chr6:g.121767968T>G (hg19) ; chr6:g.121446822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446822T>G , CM000668.2:g.121446822T>G	GRCh38
NC_000006.11:g.121767968T>G , CM000668.1:g.121767968T>G	GRCh37
NC_000006.10:g.121809667T>G	NCBI36
NG_008308.1:g.16224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-10T>G MANE Select	ENSP00000282561.3:n.-16-10T>G
ENST00000647564.1:c.-16-10T>G	ENSP00000497565.1:n.-16-10T>G
ENST00000649003.1:c.-16-10T>G	ENSP00000497283.1:n.-16-10T>G
ENST00000650427.1:c.-16-10T>G	ENSP00000497367.1:n.-16-10T>G
ENST00000282561.3:c.-16-10T>G	ENSP00000282561.3:n.-16-10T>G
NM_000165.4:c.-16-10T>G	NP_000156.1:n.-16-10T>G
NM_000165.5:c.-16-10T>G MANE Select	NP_000156.1:n.-16-10T>G