Canonical Allele Identifier: CA342223801

Gene: GJA8

Linked Data

• dbSNP Id: rs782348605
• gnomAD v4: 1-147908232-G-T
• MyVariant Identifiers: chr1:g.147380359G>T (hg19) ; chr1:g.147908232G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908232G>T , CM000663.2:g.147908232G>T	GRCh38
NC_000001.10:g.147380359G>T , CM000663.1:g.147380359G>T	GRCh37
NC_000001.9:g.145846983G>T	NCBI36
NG_016242.1:g.10414G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.277G>T MANE Select	ENSP00000358238.1:p.Val93Leu
ENST00000369235.1:c.277G>T	ENSP00000358238.1:p.Val93Leu
NM_005267.4:c.277G>T	NP_005258.2:p.Val93Leu
XM_011509416.1:c.277G>T	XP_011507718.1:p.Val93Leu
XM_011509417.1:c.277G>T	XP_011507719.1:p.Val93Leu
XM_011509417.2:c.277G>T	XP_011507719.1:p.Val93Leu
XR_002956281.1:n.1192G>T
NM_005267.5:c.277G>T MANE Select	NP_005258.2:p.Val93Leu