Canonical Allele Identifier: CA1752412127

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952731C= , CM000669.2:g.150952731C=	GRCh38
NC_000007.13:g.150649819C= , CM000669.1:g.150649819C=	GRCh37
NC_000007.12:g.150280752C=	NCBI36
NG_008916.1:g.30196G= , LRG_288:g.30196G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.549G=
ENST00000684116.1:n.144G=
ENST00000684241.1:n.2084G=
ENST00000262186.10:c.1251G= MANE Select	ENSP00000262186.5:p.Leu417=
ENST00000330883.9:c.231G=	ENSP00000328531.4:p.Leu77=
ENST00000262186.9:c.1251G=	ENSP00000262186.5:p.Leu417=
ENST00000330883.8:c.231G=	ENSP00000328531.4:p.Leu77=
ENST00000430723.4:c.903G=	ENSP00000387657.4:p.Leu301=
ENST00000461280.1:n.538G=
ENST00000473610.5:n.556G=
ENST00000532957.5:n.1474G=
NM_000238.3:c.1251G= , LRG_288t1:c.1251G=	NP_000229.1:p.Leu417=
NM_001204798.1:c.231G=	NP_001191727.1:p.Leu77=
NM_172056.2:c.1251G= , LRG_288t2:c.1251G=	NP_742053.1:p.Leu417=
NM_172057.2:c.231G= , LRG_288t3:c.231G=	NP_742054.1:p.Leu77=
XM_011516185.1:c.951G=	XP_011514487.1:p.Leu317=
XM_011516186.1:c.1251G=	XP_011514488.1:p.Leu417=
XM_011516185.2:c.951G=	XP_011514487.1:p.Leu317=
XM_011516186.3:c.1251G=	XP_011514488.1:p.Leu417=
XM_017012195.1:c.1101G=	XP_016867684.1:p.Leu367=
XM_017012196.1:c.1074G=	XP_016867685.1:p.Leu358=
NM_000238.4:c.1251G= MANE Select	NP_000229.1:p.Leu417=
NM_001204798.2:c.231G=	NP_001191727.1:p.Leu77=
NM_172057.3:c.231G=	NP_742054.1:p.Leu77=