Canonical Allele Identifier: CA1752417606

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958006T= , CM000669.2:g.150958006T=	GRCh38
NC_000007.13:g.150655094T= , CM000669.1:g.150655094T=	GRCh37
NC_000007.12:g.150286027T=	NCBI36
NG_008916.1:g.24921A= , LRG_288:g.24921A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1749+53A=
ENST00000262186.10:c.916+53A= MANE Select	ENSP00000262186.5:n.916+53A=
ENST00000262186.9:c.916+53A=	ENSP00000262186.5:n.916+53A=
ENST00000430723.4:c.568+53A=	ENSP00000387657.4:n.568+53A=
ENST00000532957.5:n.1139+53A=
NM_000238.3:c.916+53A= , LRG_288t1:c.916+53A=	NP_000229.1:n.916+53A=
NM_172056.2:c.916+53A= , LRG_288t2:c.916+53A=	NP_742053.1:n.916+53A=
XM_011516185.1:c.616+53A=	XP_011514487.1:n.616+53A=
XM_011516186.1:c.916+53A=	XP_011514488.1:n.916+53A=
XM_011516185.2:c.616+53A=	XP_011514487.1:n.616+53A=
XM_011516186.3:c.916+53A=	XP_011514488.1:n.916+53A=
XM_017012195.1:c.766+53A=	XP_016867684.1:n.766+53A=
XM_017012196.1:c.739+53A=	XP_016867685.1:n.739+53A=
NM_000238.4:c.916+53A= MANE Select	NP_000229.1:n.916+53A=