Canonical Allele Identifier: CA1752418352

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958295G= , CM000669.2:g.150958295G=	GRCh38
NC_000007.13:g.150655383G= , CM000669.1:g.150655383G=	GRCh37
NC_000007.12:g.150286316G=	NCBI36
NG_008916.1:g.24632C= , LRG_288:g.24632C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1513C=
ENST00000262186.10:c.680C= MANE Select	ENSP00000262186.5:p.Pro227=
ENST00000262186.9:c.680C=	ENSP00000262186.5:p.Pro227=
ENST00000430723.4:c.332C=	ENSP00000387657.4:p.Pro111=
ENST00000532957.5:n.903C=
NM_000238.3:c.680C= , LRG_288t1:c.680C=	NP_000229.1:p.Pro227=
NM_172056.2:c.680C= , LRG_288t2:c.680C=	NP_742053.1:p.Pro227=
XM_011516185.1:c.380C=	XP_011514487.1:p.Pro127=
XM_011516186.1:c.680C=	XP_011514488.1:p.Pro227=
XM_011516185.2:c.380C=	XP_011514487.1:p.Pro127=
XM_011516186.3:c.680C=	XP_011514488.1:p.Pro227=
XM_017012195.1:c.530C=	XP_016867684.1:p.Pro177=
XM_017012196.1:c.503C=	XP_016867685.1:p.Pro168=
NM_000238.4:c.680C= MANE Select	NP_000229.1:p.Pro227=