Canonical Allele Identifier: CA1752434417

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951092G= , CM000669.2:g.150951092G=	GRCh38
NC_000007.13:g.150648180G= , CM000669.1:g.150648180G=	GRCh37
NC_000007.12:g.150279113G=	NCBI36
NG_008916.1:g.31835C= , LRG_288:g.31835C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1272C=
ENST00000683359.1:n.98C=
ENST00000684241.1:n.2807C=
ENST00000262186.10:c.1974C= MANE Select	ENSP00000262186.5:p.Asn658=
ENST00000330883.9:c.954C=	ENSP00000328531.4:p.Asn318=
ENST00000262186.9:c.1974C=	ENSP00000262186.5:p.Asn658=
ENST00000330883.8:c.954C=	ENSP00000328531.4:p.Asn318=
ENST00000430723.4:c.1626C=	ENSP00000387657.4:p.Asn542=
ENST00000461280.1:n.1261C=
ENST00000473610.5:n.1606C=
ENST00000532957.5:n.2197C=
NM_000238.3:c.1974C= , LRG_288t1:c.1974C=	NP_000229.1:p.Asn658=
NM_001204798.1:c.954C=	NP_001191727.1:p.Asn318=
NM_172056.2:c.1974C= , LRG_288t2:c.1974C=	NP_742053.1:p.Asn658=
NM_172057.2:c.954C= , LRG_288t3:c.954C=	NP_742054.1:p.Asn318=
XM_011516185.1:c.1674C=	XP_011514487.1:p.Asn558=
XM_011516186.1:c.1974C=	XP_011514488.1:p.Asn658=
XM_011516185.2:c.1674C=	XP_011514487.1:p.Asn558=
XM_011516186.3:c.1974C=	XP_011514488.1:p.Asn658=
XM_017012195.1:c.1824C=	XP_016867684.1:p.Asn608=
XM_017012196.1:c.1797C=	XP_016867685.1:p.Asn599=
NM_000238.4:c.1974C= MANE Select	NP_000229.1:p.Asn658=
NM_001204798.2:c.954C=	NP_001191727.1:p.Asn318=
NM_172057.3:c.954C=	NP_742054.1:p.Asn318=