Canonical Allele Identifier: CA1752429353

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947461G= , CM000669.2:g.150947461G=	GRCh38
NC_000007.13:g.150644549G= , CM000669.1:g.150644549G=	GRCh37
NC_000007.12:g.150275482G=	NCBI36
NG_008916.1:g.35466C= , LRG_288:g.35466C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3852C=
ENST00000262186.10:c.3019C= MANE Select	ENSP00000262186.5:p.Arg1007=
ENST00000330883.9:c.1999C=	ENSP00000328531.4:p.Arg667=
ENST00000262186.9:c.3019C=	ENSP00000262186.5:p.Arg1007=
ENST00000330883.8:c.1999C=	ENSP00000328531.4:p.Arg667=
NM_000238.3:c.3019C= , LRG_288t1:c.3019C=	NP_000229.1:p.Arg1007=
NM_172057.2:c.1999C= , LRG_288t3:c.1999C=	NP_742054.1:p.Arg667=
XM_011516185.1:c.2719C=	XP_011514487.1:p.Arg907=
XM_011516186.1:c.*99C=	XP_011514488.1:n.*99C=
XM_011516185.2:c.2719C=	XP_011514487.1:p.Arg907=
XM_011516186.3:c.*99C=	XP_011514488.1:n.*99C=
XM_017012195.1:c.2869C=	XP_016867684.1:p.Arg957=
XM_017012196.1:c.2842C=	XP_016867685.1:p.Arg948=
NM_000238.4:c.3019C= MANE Select	NP_000229.1:p.Arg1007=
NM_172057.3:c.1999C=	NP_742054.1:p.Arg667=