Canonical Allele Identifier: CA1752409748

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951540G= , CM000669.2:g.150951540G=	GRCh38
NC_000007.13:g.150648628G= , CM000669.1:g.150648628G=	GRCh37
NC_000007.12:g.150279561G=	NCBI36
NG_008916.1:g.31387C= , LRG_288:g.31387C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1151C=
ENST00000684241.1:n.2686C=
ENST00000262186.10:c.1853C= MANE Select	ENSP00000262186.5:p.Thr618=
ENST00000330883.9:c.833C=	ENSP00000328531.4:p.Thr278=
ENST00000262186.9:c.1853C=	ENSP00000262186.5:p.Thr618=
ENST00000330883.8:c.833C=	ENSP00000328531.4:p.Thr278=
ENST00000430723.4:c.1505C=	ENSP00000387657.4:p.Thr502=
ENST00000461280.1:n.1140C=
ENST00000473610.5:n.1158C=
ENST00000532957.5:n.2076C=
NM_000238.3:c.1853C= , LRG_288t1:c.1853C=	NP_000229.1:p.Thr618=
NM_001204798.1:c.833C=	NP_001191727.1:p.Thr278=
NM_172056.2:c.1853C= , LRG_288t2:c.1853C=	NP_742053.1:p.Thr618=
NM_172057.2:c.833C= , LRG_288t3:c.833C=	NP_742054.1:p.Thr278=
XM_011516185.1:c.1553C=	XP_011514487.1:p.Thr518=
XM_011516186.1:c.1853C=	XP_011514488.1:p.Thr618=
XM_011516185.2:c.1553C=	XP_011514487.1:p.Thr518=
XM_011516186.3:c.1853C=	XP_011514488.1:p.Thr618=
XM_017012195.1:c.1703C=	XP_016867684.1:p.Thr568=
XM_017012196.1:c.1676C=	XP_016867685.1:p.Thr559=
NM_000238.4:c.1853C= MANE Select	NP_000229.1:p.Thr618=
NM_001204798.2:c.833C=	NP_001191727.1:p.Thr278=
NM_172057.3:c.833C=	NP_742054.1:p.Thr278=