Canonical Allele Identifier: CA1752428387

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947340C= , CM000669.2:g.150947340C=	GRCh38
NC_000007.13:g.150644428C= , CM000669.1:g.150644428C=	GRCh37
NC_000007.12:g.150275361C=	NCBI36
NG_008916.1:g.35587G= , LRG_288:g.35587G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3973G=
ENST00000262186.10:c.3140G= MANE Select	ENSP00000262186.5:p.Arg1047=
ENST00000330883.9:c.2120G=	ENSP00000328531.4:p.Arg707=
ENST00000262186.9:c.3140G=	ENSP00000262186.5:p.Arg1047=
ENST00000330883.8:c.2120G=	ENSP00000328531.4:p.Arg707=
NM_000238.3:c.3140G= , LRG_288t1:c.3140G=	NP_000229.1:p.Arg1047=
NM_172057.2:c.2120G= , LRG_288t3:c.2120G=	NP_742054.1:p.Arg707=
XM_011516185.1:c.2840G=	XP_011514487.1:p.Arg947=
XM_011516185.2:c.2840G=	XP_011514487.1:p.Arg947=
XM_017012195.1:c.2990G=	XP_016867684.1:p.Arg997=
XM_017012196.1:c.2963G=	XP_016867685.1:p.Arg988=
NM_000238.4:c.3140G= MANE Select	NP_000229.1:p.Arg1047=
NM_172057.3:c.2120G=	NP_742054.1:p.Arg707=