Canonical Allele Identifier: CA1065932

Gene: GJA8

Linked Data

• ClinVar Variation Id: 292466
• ClinVar RCV Id: RCV000276226 ; RCV000333662 ; RCV003409433
• dbSNP Id: rs142415337
• ExAC: 1:147380467 G / A
• gnomAD v2: 1-147380467-G-A
• gnomAD v3: 1-147908340-G-A
• gnomAD v4: 1-147908340-G-A
• MyVariant Identifiers: chr1:g.147380467G>A (hg19) ; chr1:g.147908340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908340G>A , CM000663.2:g.147908340G>A	GRCh38
NC_000001.10:g.147380467G>A , CM000663.1:g.147380467G>A	GRCh37
NC_000001.9:g.145847091G>A	NCBI36
NG_016242.1:g.10522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.385G>A MANE Select	ENSP00000358238.1:p.Val129Ile
ENST00000369235.1:c.385G>A	ENSP00000358238.1:p.Val129Ile
NM_005267.4:c.385G>A	NP_005258.2:p.Val129Ile
XM_011509416.1:c.385G>A	XP_011507718.1:p.Val129Ile
XM_011509417.1:c.385G>A	XP_011507719.1:p.Val129Ile
XM_011509417.2:c.385G>A	XP_011507719.1:p.Val129Ile
XR_002956281.1:n.1300G>A
NM_005267.5:c.385G>A MANE Select	NP_005258.2:p.Val129Ile