Canonical Allele Identifier: CA1752416637

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957336A= , CM000669.2:g.150957336A=	GRCh38
NC_000007.13:g.150654424A= , CM000669.1:g.150654424A=	GRCh37
NC_000007.12:g.150285357A=	NCBI36
NG_008916.1:g.25591T= , LRG_288:g.25591T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1916T=
ENST00000262186.10:c.1083T= MANE Select	ENSP00000262186.5:p.Pro361=
ENST00000262186.9:c.1083T=	ENSP00000262186.5:p.Pro361=
ENST00000430723.4:c.735T=	ENSP00000387657.4:p.Pro245=
ENST00000532957.5:n.1306T=
NM_000238.3:c.1083T= , LRG_288t1:c.1083T=	NP_000229.1:p.Pro361=
NM_172056.2:c.1083T= , LRG_288t2:c.1083T=	NP_742053.1:p.Pro361=
XM_011516185.1:c.783T=	XP_011514487.1:p.Pro261=
XM_011516186.1:c.1083T=	XP_011514488.1:p.Pro361=
XM_011516185.2:c.783T=	XP_011514487.1:p.Pro261=
XM_011516186.3:c.1083T=	XP_011514488.1:p.Pro361=
XM_017012195.1:c.933T=	XP_016867684.1:p.Pro311=
XM_017012196.1:c.906T=	XP_016867685.1:p.Pro302=
NM_000238.4:c.1083T= MANE Select	NP_000229.1:p.Pro361=