Canonical Allele Identifier: CA1752417024

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957497T= , CM000669.2:g.150957497T=	GRCh38
NC_000007.13:g.150654585T= , CM000669.1:g.150654585T=	GRCh37
NC_000007.12:g.150285518T=	NCBI36
NG_008916.1:g.25430A= , LRG_288:g.25430A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1755A=
ENST00000262186.10:c.922A= MANE Select	ENSP00000262186.5:p.Met308=
ENST00000262186.9:c.922A=	ENSP00000262186.5:p.Met308=
ENST00000430723.4:c.574A=	ENSP00000387657.4:p.Met192=
ENST00000532957.5:n.1145A=
NM_000238.3:c.922A= , LRG_288t1:c.922A=	NP_000229.1:p.Met308=
NM_172056.2:c.922A= , LRG_288t2:c.922A=	NP_742053.1:p.Met308=
XM_011516185.1:c.622A=	XP_011514487.1:p.Met208=
XM_011516186.1:c.922A=	XP_011514488.1:p.Met308=
XM_011516185.2:c.622A=	XP_011514487.1:p.Met208=
XM_011516186.3:c.922A=	XP_011514488.1:p.Met308=
XM_017012195.1:c.772A=	XP_016867684.1:p.Met258=
XM_017012196.1:c.745A=	XP_016867685.1:p.Met249=
NM_000238.4:c.922A= MANE Select	NP_000229.1:p.Met308=