Canonical Allele Identifier: CA1752419999

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959657G= , CM000669.2:g.150959657G=	GRCh38
NC_000007.13:g.150656745G= , CM000669.1:g.150656745G=	GRCh37
NC_000007.12:g.150287678G=	NCBI36
NG_008916.1:g.23270C= , LRG_288:g.23270C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1220C=
ENST00000262186.10:c.387C= MANE Select	ENSP00000262186.5:p.Phe129=
ENST00000262186.9:c.387C=	ENSP00000262186.5:p.Phe129=
ENST00000430723.4:c.210C=	ENSP00000387657.4:p.Phe70=
ENST00000532957.5:n.610C=
NM_000238.3:c.387C= , LRG_288t1:c.387C=	NP_000229.1:p.Phe129=
NM_172056.2:c.387C= , LRG_288t2:c.387C=	NP_742053.1:p.Phe129=
XM_011516185.1:c.87C=	XP_011514487.1:p.Phe29=
XM_011516186.1:c.387C=	XP_011514488.1:p.Phe129=
XM_011516185.2:c.87C=	XP_011514487.1:p.Phe29=
XM_011516186.3:c.387C=	XP_011514488.1:p.Phe129=
XM_017012195.1:c.237C=	XP_016867684.1:p.Phe79=
XM_017012196.1:c.210C=	XP_016867685.1:p.Phe70=
NM_000238.4:c.387C= MANE Select	NP_000229.1:p.Phe129=