Canonical Allele Identifier: CA818131504

Gene: GJA1

Linked Data

• dbSNP Id: rs1253619344
• gnomAD v3: 6-121446982-G-GGGAGATGA
• gnomAD v4: 6-121446982-G-GGGAGATGA
• MyVariant Identifiers: chr6:g.121768128_121768129insGGAGATGA (hg19) ; chr6:g.121446982_121446983insGGAGATGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446984_121446991dup , CM000668.2:g.121446984_121446991dup	GRCh38
NC_000006.11:g.121768130_121768137dup , CM000668.1:g.121768130_121768137dup	GRCh37
NC_000006.10:g.121809829_121809836dup	NCBI36
NG_008308.1:g.16386_16393dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.137_144dup MANE Select	ENSP00000282561.3:p.Gln49GlufsTer?
ENST00000647564.1:c.137_144dup	ENSP00000497565.1:p.Gln49GlufsTer?
ENST00000649003.1:c.137_144dup	ENSP00000497283.1:p.Gln49GlufsTer?
ENST00000650427.1:c.137_144dup	ENSP00000497367.1:p.Gln49GlufsTer?
ENST00000282561.3:c.137_144dup	ENSP00000282561.3:p.Gln49GlufsTer?
NM_000165.4:c.137_144dup	NP_000156.1:p.Gln49GlufsTer?
NM_000165.5:c.137_144dup MANE Select	NP_000156.1:p.Gln49GlufsTer?