Canonical Allele Identifier: CA1752430069

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947695G= , CM000669.2:g.150947695G=	GRCh38
NC_000007.13:g.150644783G= , CM000669.1:g.150644783G=	GRCh37
NC_000007.12:g.150275716G=	NCBI36
NG_008916.1:g.35232C= , LRG_288:g.35232C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3709C=
ENST00000262186.10:c.2876C= MANE Select	ENSP00000262186.5:p.Ser959=
ENST00000330883.9:c.1856C=	ENSP00000328531.4:p.Ser619=
ENST00000262186.9:c.2876C=	ENSP00000262186.5:p.Ser959=
ENST00000330883.8:c.1856C=	ENSP00000328531.4:p.Ser619=
NM_000238.3:c.2876C= , LRG_288t1:c.2876C=	NP_000229.1:p.Ser959=
NM_172057.2:c.1856C= , LRG_288t3:c.1856C=	NP_742054.1:p.Ser619=
XM_011516185.1:c.2576C=	XP_011514487.1:p.Ser859=
XM_011516186.1:c.2693-4C=	XP_011514488.1:n.2693-4C=
XM_011516185.2:c.2576C=	XP_011514487.1:p.Ser859=
XM_011516186.3:c.2693-4C=	XP_011514488.1:n.2693-4C=
XM_017012195.1:c.2726C=	XP_016867684.1:p.Ser909=
XM_017012196.1:c.2699C=	XP_016867685.1:p.Ser900=
NM_000238.4:c.2876C= MANE Select	NP_000229.1:p.Ser959=
NM_172057.3:c.1856C=	NP_742054.1:p.Ser619=