Canonical Allele Identifier: CA1752417612

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958013A= , CM000669.2:g.150958013A=	GRCh38
NC_000007.13:g.150655101A= , CM000669.1:g.150655101A=	GRCh37
NC_000007.12:g.150286034A=	NCBI36
NG_008916.1:g.24914T= , LRG_288:g.24914T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1749+46T=
ENST00000262186.10:c.916+46T= MANE Select	ENSP00000262186.5:n.916+46T=
ENST00000262186.9:c.916+46T=	ENSP00000262186.5:n.916+46T=
ENST00000430723.4:c.568+46T=	ENSP00000387657.4:n.568+46T=
ENST00000532957.5:n.1139+46T=
NM_000238.3:c.916+46T= , LRG_288t1:c.916+46T=	NP_000229.1:n.916+46T=
NM_172056.2:c.916+46T= , LRG_288t2:c.916+46T=	NP_742053.1:n.916+46T=
XM_011516185.1:c.616+46T=	XP_011514487.1:n.616+46T=
XM_011516186.1:c.916+46T=	XP_011514488.1:n.916+46T=
XM_011516185.2:c.616+46T=	XP_011514487.1:n.616+46T=
XM_011516186.3:c.916+46T=	XP_011514488.1:n.916+46T=
XM_017012195.1:c.766+46T=	XP_016867684.1:n.766+46T=
XM_017012196.1:c.739+46T=	XP_016867685.1:n.739+46T=
NM_000238.4:c.916+46T= MANE Select	NP_000229.1:n.916+46T=