Canonical Allele Identifier: CA1752411416

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952394C= , CM000669.2:g.150952394C=	GRCh38
NC_000007.13:g.150649482C= , CM000669.1:g.150649482C=	GRCh37
NC_000007.12:g.150280415C=	NCBI36
NG_008916.1:g.30533G= , LRG_288:g.30533G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.855+31G=
ENST00000684116.1:n.450+31G=
ENST00000684241.1:n.2390+31G=
ENST00000262186.10:c.1557+31G= MANE Select	ENSP00000262186.5:n.1557+31G=
ENST00000330883.9:c.537+31G=	ENSP00000328531.4:n.537+31G=
ENST00000262186.9:c.1557+31G=	ENSP00000262186.5:n.1557+31G=
ENST00000330883.8:c.537+31G=	ENSP00000328531.4:n.537+31G=
ENST00000430723.4:c.1209+31G=	ENSP00000387657.4:n.1209+31G=
ENST00000461280.1:n.844+31G=
ENST00000473610.5:n.862+31G=
ENST00000532957.5:n.1780+31G=
NM_000238.3:c.1557+31G= , LRG_288t1:c.1557+31G=	NP_000229.1:n.1557+31G=
NM_001204798.1:c.537+31G=	NP_001191727.1:n.537+31G=
NM_172056.2:c.1557+31G= , LRG_288t2:c.1557+31G=	NP_742053.1:n.1557+31G=
NM_172057.2:c.537+31G= , LRG_288t3:c.537+31G=	NP_742054.1:n.537+31G=
XM_011516185.1:c.1257+31G=	XP_011514487.1:n.1257+31G=
XM_011516186.1:c.1557+31G=	XP_011514488.1:n.1557+31G=
XM_011516185.2:c.1257+31G=	XP_011514487.1:n.1257+31G=
XM_011516186.3:c.1557+31G=	XP_011514488.1:n.1557+31G=
XM_017012195.1:c.1407+31G=	XP_016867684.1:n.1407+31G=
XM_017012196.1:c.1380+31G=	XP_016867685.1:n.1380+31G=
NM_000238.4:c.1557+31G= MANE Select	NP_000229.1:n.1557+31G=
NM_001204798.2:c.537+31G=	NP_001191727.1:n.537+31G=
NM_172057.3:c.537+31G=	NP_742054.1:n.537+31G=