Canonical Allele Identifier: CA1752420123

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959724A= , CM000669.2:g.150959724A=	GRCh38
NC_000007.13:g.150656812A= , CM000669.1:g.150656812A=	GRCh37
NC_000007.12:g.150287745A=	NCBI36
NG_008916.1:g.23203T= , LRG_288:g.23203T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1153T=
ENST00000262186.10:c.320T= MANE Select	ENSP00000262186.5:p.Leu107=
ENST00000262186.9:c.320T=	ENSP00000262186.5:p.Leu107=
ENST00000430723.4:c.143T=	ENSP00000387657.4:p.Leu48=
ENST00000532957.5:n.543T=
NM_000238.3:c.320T= , LRG_288t1:c.320T=	NP_000229.1:p.Leu107=
NM_172056.2:c.320T= , LRG_288t2:c.320T=	NP_742053.1:p.Leu107=
XM_011516185.1:c.20T=	XP_011514487.1:p.Leu7=
XM_011516186.1:c.320T=	XP_011514488.1:p.Leu107=
XM_011516185.2:c.20T=	XP_011514487.1:p.Leu7=
XM_011516186.3:c.320T=	XP_011514488.1:p.Leu107=
XM_017012195.1:c.170T=	XP_016867684.1:p.Leu57=
XM_017012196.1:c.143T=	XP_016867685.1:p.Leu48=
NM_000238.4:c.320T= MANE Select	NP_000229.1:p.Leu107=