Canonical Allele Identifier: CA1752430535

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947871C= , CM000669.2:g.150947871C=	GRCh38
NC_000007.13:g.150644959C= , CM000669.1:g.150644959C=	GRCh37
NC_000007.12:g.150275892C=	NCBI36
NG_008916.1:g.35056G= , LRG_288:g.35056G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3533G=
ENST00000262186.10:c.2700G= MANE Select	ENSP00000262186.5:p.Glu900=
ENST00000330883.9:c.1680G=	ENSP00000328531.4:p.Glu560=
ENST00000262186.9:c.2700G=	ENSP00000262186.5:p.Glu900=
ENST00000330883.8:c.1680G=	ENSP00000328531.4:p.Glu560=
NM_000238.3:c.2700G= , LRG_288t1:c.2700G=	NP_000229.1:p.Glu900=
NM_172057.2:c.1680G= , LRG_288t3:c.1680G=	NP_742054.1:p.Glu560=
XM_011516185.1:c.2400G=	XP_011514487.1:p.Glu800=
XM_011516186.1:c.2693-180G=	XP_011514488.1:n.2693-180G=
XM_011516185.2:c.2400G=	XP_011514487.1:p.Glu800=
XM_011516186.3:c.2693-180G=	XP_011514488.1:n.2693-180G=
XM_017012195.1:c.2550G=	XP_016867684.1:p.Glu850=
XM_017012196.1:c.2523G=	XP_016867685.1:p.Glu841=
NM_000238.4:c.2700G= MANE Select	NP_000229.1:p.Glu900=
NM_172057.3:c.1680G=	NP_742054.1:p.Glu560=