Canonical Allele Identifier: CA342223702

Gene: GJA8

Linked Data

• MyVariant Identifiers: chr1:g.147380334C>A (hg19) ; chr1:g.147908207C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908207C>A , CM000663.2:g.147908207C>A	GRCh38
NC_000001.10:g.147380334C>A , CM000663.1:g.147380334C>A	GRCh37
NC_000001.9:g.145846958C>A	NCBI36
NG_016242.1:g.10389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.252C>A MANE Select	ENSP00000358238.1:p.Phe84Leu
ENST00000369235.1:c.252C>A	ENSP00000358238.1:p.Phe84Leu
NM_005267.4:c.252C>A	NP_005258.2:p.Phe84Leu
XM_011509416.1:c.252C>A	XP_011507718.1:p.Phe84Leu
XM_011509417.1:c.252C>A	XP_011507719.1:p.Phe84Leu
XM_011509417.2:c.252C>A	XP_011507719.1:p.Phe84Leu
XR_002956281.1:n.1167C>A
NM_005267.5:c.252C>A MANE Select	NP_005258.2:p.Phe84Leu