Canonical Allele Identifier: CA1752431523

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948532G= , CM000669.2:g.150948532G=	GRCh38
NC_000007.13:g.150645620G= , CM000669.1:g.150645620G=	GRCh37
NC_000007.12:g.150276553G=	NCBI36
NG_008916.1:g.34395C= , LRG_288:g.34395C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3437C=
ENST00000262186.10:c.2604C= MANE Select	ENSP00000262186.5:p.Ile868=
ENST00000330883.9:c.1584C=	ENSP00000328531.4:p.Ile528=
ENST00000262186.9:c.2604C=	ENSP00000262186.5:p.Ile868=
ENST00000330883.8:c.1584C=	ENSP00000328531.4:p.Ile528=
NM_000238.3:c.2604C= , LRG_288t1:c.2604C=	NP_000229.1:p.Ile868=
NM_172057.2:c.1584C= , LRG_288t3:c.1584C=	NP_742054.1:p.Ile528=
XM_011516185.1:c.2304C=	XP_011514487.1:p.Ile768=
XM_011516186.1:c.2604C=	XP_011514488.1:p.Ile868=
XM_011516185.2:c.2304C=	XP_011514487.1:p.Ile768=
XM_011516186.3:c.2604C=	XP_011514488.1:p.Ile868=
XM_017012195.1:c.2454C=	XP_016867684.1:p.Ile818=
XM_017012196.1:c.2427C=	XP_016867685.1:p.Ile809=
NM_000238.4:c.2604C= MANE Select	NP_000229.1:p.Ile868=
NM_172057.3:c.1584C=	NP_742054.1:p.Ile528=