Canonical Allele Identifier: CA1752431374

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948475G= , CM000669.2:g.150948475G=	GRCh38
NC_000007.13:g.150645563G= , CM000669.1:g.150645563G=	GRCh37
NC_000007.12:g.150276496G=	NCBI36
NG_008916.1:g.34452C= , LRG_288:g.34452C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3494C=
ENST00000262186.10:c.2661C= MANE Select	ENSP00000262186.5:p.Arg887=
ENST00000330883.9:c.1641C=	ENSP00000328531.4:p.Arg547=
ENST00000262186.9:c.2661C=	ENSP00000262186.5:p.Arg887=
ENST00000330883.8:c.1641C=	ENSP00000328531.4:p.Arg547=
NM_000238.3:c.2661C= , LRG_288t1:c.2661C=	NP_000229.1:p.Arg887=
NM_172057.2:c.1641C= , LRG_288t3:c.1641C=	NP_742054.1:p.Arg547=
XM_011516185.1:c.2361C=	XP_011514487.1:p.Arg787=
XM_011516186.1:c.2661C=	XP_011514488.1:p.Arg887=
XM_011516185.2:c.2361C=	XP_011514487.1:p.Arg787=
XM_011516186.3:c.2661C=	XP_011514488.1:p.Arg887=
XM_017012195.1:c.2511C=	XP_016867684.1:p.Arg837=
XM_017012196.1:c.2484C=	XP_016867685.1:p.Arg828=
NM_000238.4:c.2661C= MANE Select	NP_000229.1:p.Arg887=
NM_172057.3:c.1641C=	NP_742054.1:p.Arg547=