Canonical Allele Identifier: CA1752425662

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945428C= , CM000669.2:g.150945428C=	GRCh38
NC_000007.13:g.150642516C= , CM000669.1:g.150642516C=	GRCh37
NC_000007.12:g.150273449C=	NCBI36
NG_008916.1:g.37499G= , LRG_288:g.37499G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4250G=
ENST00000262186.10:c.3417G= MANE Select	ENSP00000262186.5:p.Pro1139=
ENST00000330883.9:c.2397G=	ENSP00000328531.4:p.Pro799=
ENST00000262186.9:c.3417G=	ENSP00000262186.5:p.Pro1139=
ENST00000330883.8:c.2397G=	ENSP00000328531.4:p.Pro799=
NM_000238.3:c.3417G= , LRG_288t1:c.3417G=	NP_000229.1:p.Pro1139=
NM_172057.2:c.2397G= , LRG_288t3:c.2397G=	NP_742054.1:p.Pro799=
XM_011516185.1:c.3117G=	XP_011514487.1:p.Pro1039=
XM_011516185.2:c.3117G=	XP_011514487.1:p.Pro1039=
XM_017012195.1:c.3267G=	XP_016867684.1:p.Pro1089=
XM_017012196.1:c.3240G=	XP_016867685.1:p.Pro1080=
NM_000238.4:c.3417G= MANE Select	NP_000229.1:p.Pro1139=
NM_172057.3:c.2397G=	NP_742054.1:p.Pro799=