Canonical Allele Identifier: CA570510545

Gene: GJA1

Linked Data

• dbSNP Id: rs1229680139
• gnomAD v2: 6-121768207-ATC-A
• gnomAD v4: 6-121447061-ATC-A
• MyVariant Identifiers: chr6:g.121768208_121768209del (hg19) ; chr6:g.121447062_121447063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447066_121447067del , CM000668.2:g.121447066_121447067del	GRCh38
NC_000006.11:g.121768212_121768213del , CM000668.1:g.121768212_121768213del	GRCh37
NC_000006.10:g.121809911_121809912del	NCBI36
NG_008308.1:g.16468_16469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.219_220del MANE Select	ENSP00000282561.3:p.His74CysfsTer?
ENST00000647564.1:c.219_220del	ENSP00000497565.1:p.His74CysfsTer?
ENST00000649003.1:c.219_220del	ENSP00000497283.1:p.His74CysfsTer?
ENST00000650427.1:c.219_220del	ENSP00000497367.1:p.His74CysfsTer?
ENST00000282561.3:c.219_220del	ENSP00000282561.3:p.His74CysfsTer?
NM_000165.4:c.219_220del	NP_000156.1:p.His74CysfsTer?
NM_000165.5:c.219_220del MANE Select	NP_000156.1:p.His74CysfsTer?