Canonical Allele Identifier: CA3981643

Gene: GJA1

Linked Data

• dbSNP Id: rs779425310
• ExAC: 6:121767961 CTCTTTGTT / C
• gnomAD v2: 6-121767961-CTCTTTGTT-C
• gnomAD v3: 6-121446815-CTCTTTGTT-C
• gnomAD v4: 6-121446815-CTCTTTGTT-C
• MyVariant Identifiers: chr6:g.121767962_121767969del (hg19) ; chr6:g.121446817_121446824del (hg38) ; chr6:g.121446816_121446823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446821_121446828del , CM000668.2:g.121446821_121446828del	GRCh38
NC_000006.11:g.121767967_121767974del , CM000668.1:g.121767967_121767974del	GRCh37
NC_000006.10:g.121809666_121809673del	NCBI36
NG_008308.1:g.16223_16230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-11_-16-4del MANE Select	ENSP00000282561.3:n.-16-11_-16-4del
ENST00000647564.1:c.-16-11_-16-4del	ENSP00000497565.1:n.-16-11_-16-4del
ENST00000649003.1:c.-16-11_-16-4del	ENSP00000497283.1:n.-16-11_-16-4del
ENST00000650427.1:c.-16-11_-16-4del	ENSP00000497367.1:n.-16-11_-16-4del
ENST00000282561.3:c.-16-11_-16-4del	ENSP00000282561.3:n.-16-11_-16-4del
NM_000165.4:c.-16-11_-16-4del	NP_000156.1:n.-16-11_-16-4del
NM_000165.5:c.-16-11_-16-4del MANE Select	NP_000156.1:n.-16-11_-16-4del