Canonical Allele Identifier: CA1752431413

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948483G= , CM000669.2:g.150948483G=	GRCh38
NC_000007.13:g.150645571G= , CM000669.1:g.150645571G=	GRCh37
NC_000007.12:g.150276504G=	NCBI36
NG_008916.1:g.34444C= , LRG_288:g.34444C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3486C=
ENST00000262186.10:c.2653C= MANE Select	ENSP00000262186.5:p.Arg885=
ENST00000330883.9:c.1633C=	ENSP00000328531.4:p.Arg545=
ENST00000262186.9:c.2653C=	ENSP00000262186.5:p.Arg885=
ENST00000330883.8:c.1633C=	ENSP00000328531.4:p.Arg545=
NM_000238.3:c.2653C= , LRG_288t1:c.2653C=	NP_000229.1:p.Arg885=
NM_172057.2:c.1633C= , LRG_288t3:c.1633C=	NP_742054.1:p.Arg545=
XM_011516185.1:c.2353C=	XP_011514487.1:p.Arg785=
XM_011516186.1:c.2653C=	XP_011514488.1:p.Arg885=
XM_011516185.2:c.2353C=	XP_011514487.1:p.Arg785=
XM_011516186.3:c.2653C=	XP_011514488.1:p.Arg885=
XM_017012195.1:c.2503C=	XP_016867684.1:p.Arg835=
XM_017012196.1:c.2476C=	XP_016867685.1:p.Arg826=
NM_000238.4:c.2653C= MANE Select	NP_000229.1:p.Arg885=
NM_172057.3:c.1633C=	NP_742054.1:p.Arg545=