Canonical Allele Identifier: CA342224374

Gene: GJA8

Linked Data

• gnomAD v4: 1-147908368-C-T
• MyVariant Identifiers: chr1:g.147380495C>T (hg19) ; chr1:g.147908368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908368C>T , CM000663.2:g.147908368C>T	GRCh38
NC_000001.10:g.147380495C>T , CM000663.1:g.147380495C>T	GRCh37
NC_000001.9:g.145847119C>T	NCBI36
NG_016242.1:g.10550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.413C>T MANE Select	ENSP00000358238.1:p.Thr138Ile
ENST00000369235.1:c.413C>T	ENSP00000358238.1:p.Thr138Ile
NM_005267.4:c.413C>T	NP_005258.2:p.Thr138Ile
XM_011509416.1:c.413C>T	XP_011507718.1:p.Thr138Ile
XM_011509417.1:c.413C>T	XP_011507719.1:p.Thr138Ile
XM_011509417.2:c.413C>T	XP_011507719.1:p.Thr138Ile
XR_002956281.1:n.1328C>T
NM_005267.5:c.413C>T MANE Select	NP_005258.2:p.Thr138Ile