Canonical Allele Identifier: CA1752420047

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959689C= , CM000669.2:g.150959689C=	GRCh38
NC_000007.13:g.150656777C= , CM000669.1:g.150656777C=	GRCh37
NC_000007.12:g.150287710C=	NCBI36
NG_008916.1:g.23238G= , LRG_288:g.23238G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1188G=
ENST00000262186.10:c.355G= MANE Select	ENSP00000262186.5:p.Asp119=
ENST00000262186.9:c.355G=	ENSP00000262186.5:p.Asp119=
ENST00000430723.4:c.178G=	ENSP00000387657.4:p.Asp60=
ENST00000532957.5:n.578G=
NM_000238.3:c.355G= , LRG_288t1:c.355G=	NP_000229.1:p.Asp119=
NM_172056.2:c.355G= , LRG_288t2:c.355G=	NP_742053.1:p.Asp119=
XM_011516185.1:c.55G=	XP_011514487.1:p.Asp19=
XM_011516186.1:c.355G=	XP_011514488.1:p.Asp119=
XM_011516185.2:c.55G=	XP_011514487.1:p.Asp19=
XM_011516186.3:c.355G=	XP_011514488.1:p.Asp119=
XM_017012195.1:c.205G=	XP_016867684.1:p.Asp69=
XM_017012196.1:c.178G=	XP_016867685.1:p.Asp60=
NM_000238.4:c.355G= MANE Select	NP_000229.1:p.Asp119=