Canonical Allele Identifier: CA1752434413

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951087G= , CM000669.2:g.150951087G=	GRCh38
NC_000007.13:g.150648175G= , CM000669.1:g.150648175G=	GRCh37
NC_000007.12:g.150279108G=	NCBI36
NG_008916.1:g.31840C= , LRG_288:g.31840C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1277C=
ENST00000683359.1:n.103C=
ENST00000684241.1:n.2812C=
ENST00000262186.10:c.1979C= MANE Select	ENSP00000262186.5:p.Ser660=
ENST00000330883.9:c.959C=	ENSP00000328531.4:p.Ser320=
ENST00000262186.9:c.1979C=	ENSP00000262186.5:p.Ser660=
ENST00000330883.8:c.959C=	ENSP00000328531.4:p.Ser320=
ENST00000430723.4:c.1631C=	ENSP00000387657.4:p.Ser544=
ENST00000461280.1:n.1266C=
ENST00000473610.5:n.1611C=
ENST00000532957.5:n.2202C=
NM_000238.3:c.1979C= , LRG_288t1:c.1979C=	NP_000229.1:p.Ser660=
NM_001204798.1:c.959C=	NP_001191727.1:p.Ser320=
NM_172056.2:c.1979C= , LRG_288t2:c.1979C=	NP_742053.1:p.Ser660=
NM_172057.2:c.959C= , LRG_288t3:c.959C=	NP_742054.1:p.Ser320=
XM_011516185.1:c.1679C=	XP_011514487.1:p.Ser560=
XM_011516186.1:c.1979C=	XP_011514488.1:p.Ser660=
XM_011516185.2:c.1679C=	XP_011514487.1:p.Ser560=
XM_011516186.3:c.1979C=	XP_011514488.1:p.Ser660=
XM_017012195.1:c.1829C=	XP_016867684.1:p.Ser610=
XM_017012196.1:c.1802C=	XP_016867685.1:p.Ser601=
NM_000238.4:c.1979C= MANE Select	NP_000229.1:p.Ser660=
NM_001204798.2:c.959C=	NP_001191727.1:p.Ser320=
NM_172057.3:c.959C=	NP_742054.1:p.Ser320=