Canonical Allele Identifier: CA1752434317

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951033A= , CM000669.2:g.150951033A=	GRCh38
NC_000007.13:g.150648121A= , CM000669.1:g.150648121A=	GRCh37
NC_000007.12:g.150279054A=	NCBI36
NG_008916.1:g.31894T= , LRG_288:g.31894T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1331T=
ENST00000683359.1:n.157T=
ENST00000684241.1:n.2866T=
ENST00000262186.10:c.2033T= MANE Select	ENSP00000262186.5:p.Leu678=
ENST00000330883.9:c.1013T=	ENSP00000328531.4:p.Leu338=
ENST00000262186.9:c.2033T=	ENSP00000262186.5:p.Leu678=
ENST00000330883.8:c.1013T=	ENSP00000328531.4:p.Leu338=
ENST00000430723.4:c.1685T=	ENSP00000387657.4:p.Leu562=
ENST00000461280.1:n.1320T=
ENST00000473610.5:n.1665T=
ENST00000532957.5:n.2256T=
NM_000238.3:c.2033T= , LRG_288t1:c.2033T=	NP_000229.1:p.Leu678=
NM_001204798.1:c.1013T=	NP_001191727.1:p.Leu338=
NM_172056.2:c.2033T= , LRG_288t2:c.2033T=	NP_742053.1:p.Leu678=
NM_172057.2:c.1013T= , LRG_288t3:c.1013T=	NP_742054.1:p.Leu338=
XM_011516185.1:c.1733T=	XP_011514487.1:p.Leu578=
XM_011516186.1:c.2033T=	XP_011514488.1:p.Leu678=
XM_011516185.2:c.1733T=	XP_011514487.1:p.Leu578=
XM_011516186.3:c.2033T=	XP_011514488.1:p.Leu678=
XM_017012195.1:c.1883T=	XP_016867684.1:p.Leu628=
XM_017012196.1:c.1856T=	XP_016867685.1:p.Leu619=
NM_000238.4:c.2033T= MANE Select	NP_000229.1:p.Leu678=
NM_001204798.2:c.1013T=	NP_001191727.1:p.Leu338=
NM_172057.3:c.1013T=	NP_742054.1:p.Leu338=