Canonical Allele Identifier: CA342224502

Gene: GJA8

Linked Data

• gnomAD v4: 1-147908409-A-C
• MyVariant Identifiers: chr1:g.147380536A>C (hg19) ; chr1:g.147908409A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908409A>C , CM000663.2:g.147908409A>C	GRCh38
NC_000001.10:g.147380536A>C , CM000663.1:g.147380536A>C	GRCh37
NC_000001.9:g.145847160A>C	NCBI36
NG_016242.1:g.10591A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.454A>C MANE Select	ENSP00000358238.1:p.Ile152Leu
ENST00000369235.1:c.454A>C	ENSP00000358238.1:p.Ile152Leu
NM_005267.4:c.454A>C	NP_005258.2:p.Ile152Leu
XM_011509416.1:c.454A>C	XP_011507718.1:p.Ile152Leu
XM_011509417.1:c.454A>C	XP_011507719.1:p.Ile152Leu
XM_011509417.2:c.454A>C	XP_011507719.1:p.Ile152Leu
XR_002956281.1:n.1369A>C
NM_005267.5:c.454A>C MANE Select	NP_005258.2:p.Ile152Leu