Canonical Allele Identifier: CA1752428908

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947414G= , CM000669.2:g.150947414G=	GRCh38
NC_000007.13:g.150644502G= , CM000669.1:g.150644502G=	GRCh37
NC_000007.12:g.150275435G=	NCBI36
NG_008916.1:g.35513C= , LRG_288:g.35513C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3899C=
ENST00000262186.10:c.3066C= MANE Select	ENSP00000262186.5:p.Leu1022=
ENST00000330883.9:c.2046C=	ENSP00000328531.4:p.Leu682=
ENST00000262186.9:c.3066C=	ENSP00000262186.5:p.Leu1022=
ENST00000330883.8:c.2046C=	ENSP00000328531.4:p.Leu682=
NM_000238.3:c.3066C= , LRG_288t1:c.3066C=	NP_000229.1:p.Leu1022=
NM_172057.2:c.2046C= , LRG_288t3:c.2046C=	NP_742054.1:p.Leu682=
XM_011516185.1:c.2766C=	XP_011514487.1:p.Leu922=
XM_011516185.2:c.2766C=	XP_011514487.1:p.Leu922=
XM_017012195.1:c.2916C=	XP_016867684.1:p.Leu972=
XM_017012196.1:c.2889C=	XP_016867685.1:p.Leu963=
NM_000238.4:c.3066C= MANE Select	NP_000229.1:p.Leu1022=
NM_172057.3:c.2046C=	NP_742054.1:p.Leu682=