Canonical Allele Identifier: CA1752425687

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945441C= , CM000669.2:g.150945441C=	GRCh38
NC_000007.13:g.150642529C= , CM000669.1:g.150642529C=	GRCh37
NC_000007.12:g.150273462C=	NCBI36
NG_008916.1:g.37486G= , LRG_288:g.37486G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4237G=
ENST00000262186.10:c.3404G= MANE Select	ENSP00000262186.5:p.Arg1135=
ENST00000330883.9:c.2384G=	ENSP00000328531.4:p.Arg795=
ENST00000262186.9:c.3404G=	ENSP00000262186.5:p.Arg1135=
ENST00000330883.8:c.2384G=	ENSP00000328531.4:p.Arg795=
NM_000238.3:c.3404G= , LRG_288t1:c.3404G=	NP_000229.1:p.Arg1135=
NM_172057.2:c.2384G= , LRG_288t3:c.2384G=	NP_742054.1:p.Arg795=
XM_011516185.1:c.3104G=	XP_011514487.1:p.Arg1035=
XM_011516185.2:c.3104G=	XP_011514487.1:p.Arg1035=
XM_017012195.1:c.3254G=	XP_016867684.1:p.Arg1085=
XM_017012196.1:c.3227G=	XP_016867685.1:p.Arg1076=
NM_000238.4:c.3404G= MANE Select	NP_000229.1:p.Arg1135=
NM_172057.3:c.2384G=	NP_742054.1:p.Arg795=