Canonical Allele Identifier: CA1752432052

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949000G= , CM000669.2:g.150949000G=	GRCh38
NC_000007.13:g.150646088G= , CM000669.1:g.150646088G=	GRCh37
NC_000007.12:g.150277021G=	NCBI36
NG_008916.1:g.33927C= , LRG_288:g.33927C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3281C=
ENST00000262186.10:c.2448C= MANE Select	ENSP00000262186.5:p.Gly816=
ENST00000330883.9:c.1428C=	ENSP00000328531.4:p.Gly476=
ENST00000262186.9:c.2448C=	ENSP00000262186.5:p.Gly816=
ENST00000330883.8:c.1428C=	ENSP00000328531.4:p.Gly476=
NM_000238.3:c.2448C= , LRG_288t1:c.2448C=	NP_000229.1:p.Gly816=
NM_172057.2:c.1428C= , LRG_288t3:c.1428C=	NP_742054.1:p.Gly476=
XM_011516185.1:c.2148C=	XP_011514487.1:p.Gly716=
XM_011516186.1:c.2448C=	XP_011514488.1:p.Gly816=
XM_011516185.2:c.2148C=	XP_011514487.1:p.Gly716=
XM_011516186.3:c.2448C=	XP_011514488.1:p.Gly816=
XM_017012195.1:c.2298C=	XP_016867684.1:p.Gly766=
XM_017012196.1:c.2271C=	XP_016867685.1:p.Gly757=
NM_000238.4:c.2448C= MANE Select	NP_000229.1:p.Gly816=
NM_172057.3:c.1428C=	NP_742054.1:p.Gly476=