Canonical Allele Identifier: CA342223045

Gene: GJA8

Linked Data

• COSMIC: COSM2121843
• MyVariant Identifiers: chr1:g.147380164G>T (hg19) ; chr1:g.147908037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908037G>T , CM000663.2:g.147908037G>T	GRCh38
NC_000001.10:g.147380164G>T , CM000663.1:g.147380164G>T	GRCh37
NC_000001.9:g.145846788G>T	NCBI36
NG_016242.1:g.10219G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.82G>T MANE Select	ENSP00000358238.1:p.Val28Leu
ENST00000369235.1:c.82G>T	ENSP00000358238.1:p.Val28Leu
NM_005267.4:c.82G>T	NP_005258.2:p.Val28Leu
XM_011509416.1:c.82G>T	XP_011507718.1:p.Val28Leu
XM_011509417.1:c.82G>T	XP_011507719.1:p.Val28Leu
XM_011509417.2:c.82G>T	XP_011507719.1:p.Val28Leu
XR_002956281.1:n.997G>T
NM_005267.5:c.82G>T MANE Select	NP_005258.2:p.Val28Leu