Canonical Allele Identifier: CA1752434135

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950935T= , CM000669.2:g.150950935T=	GRCh38
NC_000007.13:g.150648023T= , CM000669.1:g.150648023T=	GRCh37
NC_000007.12:g.150278956T=	NCBI36
NG_008916.1:g.31992A= , LRG_288:g.31992A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2131A= MANE Select	NP_000229.1:p.Ile711=
ENST00000262186.10:c.2131A= MANE Select	ENSP00000262186.5:p.Ile711=
NM_000238.3:c.2131A= , LRG_288t1:c.2131A=	NP_000229.1:p.Ile711=
NM_001204798.1:c.1111A=	NP_001191727.1:p.Ile371=
NM_001204798.2:c.1111A=	NP_001191727.1:p.Ile371=
NM_172056.2:c.2131A= , LRG_288t2:c.2131A=	NP_742053.1:p.Ile711=
NM_172057.2:c.1111A= , LRG_288t3:c.1111A=	NP_742054.1:p.Ile371=
NM_172057.3:c.1111A=	NP_742054.1:p.Ile371=
ENST00000262186.9:c.2131A=	ENSP00000262186.5:p.Ile711=
ENST00000330883.8:c.1111A=	ENSP00000328531.4:p.Ile371=
ENST00000330883.9:c.1111A=	ENSP00000328531.4:p.Ile371=
ENST00000430723.4:c.1783A=	ENSP00000387657.4:p.Ile595=
ENST00000461280.1:n.1418A=
ENST00000461280.2:n.1429A=
ENST00000473610.5:n.1763A=
ENST00000532957.5:n.2354A=
ENST00000683359.1:n.255A=
ENST00000684241.1:n.2964A=
XM_011516185.1:c.1831A=	XP_011514487.1:p.Ile611=
XM_011516185.2:c.1831A=	XP_011514487.1:p.Ile611=
XM_011516186.1:c.2131A=	XP_011514488.1:p.Ile711=
XM_011516186.3:c.2131A=	XP_011514488.1:p.Ile711=
XM_017012195.1:c.1981A=	XP_016867684.1:p.Ile661=
XM_017012196.1:c.1954A=	XP_016867685.1:p.Ile652=