Canonical Allele Identifier: CA1752431369

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948471A= , CM000669.2:g.150948471A=	GRCh38
NC_000007.13:g.150645559A= , CM000669.1:g.150645559A=	GRCh37
NC_000007.12:g.150276492A=	NCBI36
NG_008916.1:g.34456T= , LRG_288:g.34456T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3498T=
ENST00000262186.10:c.2665T= MANE Select	ENSP00000262186.5:p.Leu889=
ENST00000330883.9:c.1645T=	ENSP00000328531.4:p.Leu549=
ENST00000262186.9:c.2665T=	ENSP00000262186.5:p.Leu889=
ENST00000330883.8:c.1645T=	ENSP00000328531.4:p.Leu549=
NM_000238.3:c.2665T= , LRG_288t1:c.2665T=	NP_000229.1:p.Leu889=
NM_172057.2:c.1645T= , LRG_288t3:c.1645T=	NP_742054.1:p.Leu549=
XM_011516185.1:c.2365T=	XP_011514487.1:p.Leu789=
XM_011516186.1:c.2665T=	XP_011514488.1:p.Leu889=
XM_011516185.2:c.2365T=	XP_011514487.1:p.Leu789=
XM_011516186.3:c.2665T=	XP_011514488.1:p.Leu889=
XM_017012195.1:c.2515T=	XP_016867684.1:p.Leu839=
XM_017012196.1:c.2488T=	XP_016867685.1:p.Leu830=
NM_000238.4:c.2665T= MANE Select	NP_000229.1:p.Leu889=
NM_172057.3:c.1645T=	NP_742054.1:p.Leu549=