Canonical Allele Identifier: CA342222986

Gene: GJA8

Linked Data

• dbSNP Id: rs80358203
• gnomAD v4: 1-147908023-G-A
• MyVariant Identifiers: chr1:g.147380150G>A (hg19) ; chr1:g.147908023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908023G>A , CM000663.2:g.147908023G>A	GRCh38
NC_000001.10:g.147380150G>A , CM000663.1:g.147380150G>A	GRCh37
NC_000001.9:g.145846774G>A	NCBI36
NG_016242.1:g.10205G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369235.2:c.68G>A MANE Select	ENSP00000358238.1:p.Arg23Lys
ENST00000369235.1:c.68G>A	ENSP00000358238.1:p.Arg23Lys
NM_005267.4:c.68G>A	NP_005258.2:p.Arg23Lys
XM_011509416.1:c.68G>A	XP_011507718.1:p.Arg23Lys
XM_011509417.1:c.68G>A	XP_011507719.1:p.Arg23Lys
XM_011509417.2:c.68G>A	XP_011507719.1:p.Arg23Lys
XR_002956281.1:n.983G>A
NM_005267.5:c.68G>A MANE Select	NP_005258.2:p.Arg23Lys