Canonical Allele Identifier: CA1752418429

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958325G= , CM000669.2:g.150958325G=	GRCh38
NC_000007.13:g.150655413G= , CM000669.1:g.150655413G=	GRCh37
NC_000007.12:g.150286346G=	NCBI36
NG_008916.1:g.24602C= , LRG_288:g.24602C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1483C=
ENST00000262186.10:c.650C= MANE Select	ENSP00000262186.5:p.Ala217=
ENST00000262186.9:c.650C=	ENSP00000262186.5:p.Ala217=
ENST00000430723.4:c.302C=	ENSP00000387657.4:p.Ala101=
ENST00000532957.5:n.873C=
NM_000238.3:c.650C= , LRG_288t1:c.650C=	NP_000229.1:p.Ala217=
NM_172056.2:c.650C= , LRG_288t2:c.650C=	NP_742053.1:p.Ala217=
XM_011516185.1:c.350C=	XP_011514487.1:p.Ala117=
XM_011516186.1:c.650C=	XP_011514488.1:p.Ala217=
XM_011516185.2:c.350C=	XP_011514487.1:p.Ala117=
XM_011516186.3:c.650C=	XP_011514488.1:p.Ala217=
XM_017012195.1:c.500C=	XP_016867684.1:p.Ala167=
XM_017012196.1:c.473C=	XP_016867685.1:p.Ala158=
NM_000238.4:c.650C= MANE Select	NP_000229.1:p.Ala217=