Canonical Allele Identifier: CA342224403

Gene: GJA8

Linked Data

• gnomAD v4: 1-147908375-G-T
• MyVariant Identifiers: chr1:g.147380502G>T (hg19) ; chr1:g.147908375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908375G>T , CM000663.2:g.147908375G>T	GRCh38
NC_000001.10:g.147380502G>T , CM000663.1:g.147380502G>T	GRCh37
NC_000001.9:g.145847126G>T	NCBI36
NG_016242.1:g.10557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.420G>T MANE Select	ENSP00000358238.1:p.Lys140Asn
ENST00000369235.1:c.420G>T	ENSP00000358238.1:p.Lys140Asn
NM_005267.4:c.420G>T	NP_005258.2:p.Lys140Asn
XM_011509416.1:c.420G>T	XP_011507718.1:p.Lys140Asn
XM_011509417.1:c.420G>T	XP_011507719.1:p.Lys140Asn
XM_011509417.2:c.420G>T	XP_011507719.1:p.Lys140Asn
XR_002956281.1:n.1335G>T
NM_005267.5:c.420G>T MANE Select	NP_005258.2:p.Lys140Asn