Canonical Allele Identifier: CA1752420133

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959727A= , CM000669.2:g.150959727A=	GRCh38
NC_000007.13:g.150656815A= , CM000669.1:g.150656815A=	GRCh37
NC_000007.12:g.150287748A=	NCBI36
NG_008916.1:g.23200T= , LRG_288:g.23200T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1150T=
ENST00000262186.10:c.317T= MANE Select	ENSP00000262186.5:p.Phe106=
ENST00000262186.9:c.317T=	ENSP00000262186.5:p.Phe106=
ENST00000430723.4:c.140T=	ENSP00000387657.4:p.Phe47=
ENST00000532957.5:n.540T=
NM_000238.3:c.317T= , LRG_288t1:c.317T=	NP_000229.1:p.Phe106=
NM_172056.2:c.317T= , LRG_288t2:c.317T=	NP_742053.1:p.Phe106=
XM_011516185.1:c.17T=	XP_011514487.1:p.Phe6=
XM_011516186.1:c.317T=	XP_011514488.1:p.Phe106=
XM_011516185.2:c.17T=	XP_011514487.1:p.Phe6=
XM_011516186.3:c.317T=	XP_011514488.1:p.Phe106=
XM_017012195.1:c.167T=	XP_016867684.1:p.Phe56=
XM_017012196.1:c.140T=	XP_016867685.1:p.Phe47=
NM_000238.4:c.317T= MANE Select	NP_000229.1:p.Phe106=