Canonical Allele Identifier: CA1752425682

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945439G= , CM000669.2:g.150945439G=	GRCh38
NC_000007.13:g.150642527G= , CM000669.1:g.150642527G=	GRCh37
NC_000007.12:g.150273460G=	NCBI36
NG_008916.1:g.37488C= , LRG_288:g.37488C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4239C=
ENST00000262186.10:c.3406C= MANE Select	ENSP00000262186.5:p.Leu1136=
ENST00000330883.9:c.2386C=	ENSP00000328531.4:p.Leu796=
ENST00000262186.9:c.3406C=	ENSP00000262186.5:p.Leu1136=
ENST00000330883.8:c.2386C=	ENSP00000328531.4:p.Leu796=
NM_000238.3:c.3406C= , LRG_288t1:c.3406C=	NP_000229.1:p.Leu1136=
NM_172057.2:c.2386C= , LRG_288t3:c.2386C=	NP_742054.1:p.Leu796=
XM_011516185.1:c.3106C=	XP_011514487.1:p.Leu1036=
XM_011516185.2:c.3106C=	XP_011514487.1:p.Leu1036=
XM_017012195.1:c.3256C=	XP_016867684.1:p.Leu1086=
XM_017012196.1:c.3229C=	XP_016867685.1:p.Leu1077=
NM_000238.4:c.3406C= MANE Select	NP_000229.1:p.Leu1136=
NM_172057.3:c.2386C=	NP_742054.1:p.Leu796=