Canonical Allele Identifier: CA458871875

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974793C>T , CM000669.2:g.150974793C>T	GRCh38
NC_000007.13:g.150671881C>T , CM000669.1:g.150671881C>T	GRCh37
NC_000007.12:g.150302814C>T	NCBI36
NG_008916.1:g.8134G>A , LRG_288:g.8134G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.225G>A MANE Select	NP_000229.1:p.Gln75=
ENST00000262186.10:c.225G>A MANE Select	ENSP00000262186.5:p.Gln75=
NM_000238.3:c.225G>A , LRG_288t1:c.225G>A	NP_000229.1:p.Gln75=
NM_172056.2:c.225G>A , LRG_288t2:c.225G>A	NP_742053.1:p.Gln75=
ENST00000262186.9:c.225G>A	ENSP00000262186.5:p.Gln75=
ENST00000430723.4:c.48G>A	ENSP00000387657.4:p.Gln16=
ENST00000532957.5:n.448G>A
XM_011516186.1:c.225G>A	XP_011514488.1:p.Gln75=
XM_011516186.3:c.225G>A	XP_011514488.1:p.Gln75=
XM_017012196.1:c.48G>A	XP_016867685.1:p.Gln16=