Canonical Allele Identifier: CA1752418394

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958312G= , CM000669.2:g.150958312G=	GRCh38
NC_000007.13:g.150655400G= , CM000669.1:g.150655400G=	GRCh37
NC_000007.12:g.150286333G=	NCBI36
NG_008916.1:g.24615C= , LRG_288:g.24615C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1496C=
ENST00000262186.10:c.663C= MANE Select	ENSP00000262186.5:p.His221=
ENST00000262186.9:c.663C=	ENSP00000262186.5:p.His221=
ENST00000430723.4:c.315C=	ENSP00000387657.4:p.His105=
ENST00000532957.5:n.886C=
NM_000238.3:c.663C= , LRG_288t1:c.663C=	NP_000229.1:p.His221=
NM_172056.2:c.663C= , LRG_288t2:c.663C=	NP_742053.1:p.His221=
XM_011516185.1:c.363C=	XP_011514487.1:p.His121=
XM_011516186.1:c.663C=	XP_011514488.1:p.His221=
XM_011516185.2:c.363C=	XP_011514487.1:p.His121=
XM_011516186.3:c.663C=	XP_011514488.1:p.His221=
XM_017012195.1:c.513C=	XP_016867684.1:p.His171=
XM_017012196.1:c.486C=	XP_016867685.1:p.His162=
NM_000238.4:c.663C= MANE Select	NP_000229.1:p.His221=