Canonical Allele Identifier: CA1752431820

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948862C= , CM000669.2:g.150948862C=	GRCh38
NC_000007.13:g.150645950C= , CM000669.1:g.150645950C=	GRCh37
NC_000007.12:g.150276883C=	NCBI36
NG_008916.1:g.34065G= , LRG_288:g.34065G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3419G=
ENST00000262186.10:c.2586G= MANE Select	ENSP00000262186.5:p.Leu862=
ENST00000330883.9:c.1566G=	ENSP00000328531.4:p.Leu522=
ENST00000262186.9:c.2586G=	ENSP00000262186.5:p.Leu862=
ENST00000330883.8:c.1566G=	ENSP00000328531.4:p.Leu522=
NM_000238.3:c.2586G= , LRG_288t1:c.2586G=	NP_000229.1:p.Leu862=
NM_172057.2:c.1566G= , LRG_288t3:c.1566G=	NP_742054.1:p.Leu522=
XM_011516185.1:c.2286G=	XP_011514487.1:p.Leu762=
XM_011516186.1:c.2586G=	XP_011514488.1:p.Leu862=
XM_011516185.2:c.2286G=	XP_011514487.1:p.Leu762=
XM_011516186.3:c.2586G=	XP_011514488.1:p.Leu862=
XM_017012195.1:c.2436G=	XP_016867684.1:p.Leu812=
XM_017012196.1:c.2409G=	XP_016867685.1:p.Leu803=
NM_000238.4:c.2586G= MANE Select	NP_000229.1:p.Leu862=
NM_172057.3:c.1566G=	NP_742054.1:p.Leu522=