Canonical Allele Identifier: CA1752416940

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957470T= , CM000669.2:g.150957470T=	GRCh38
NC_000007.13:g.150654558T= , CM000669.1:g.150654558T=	GRCh37
NC_000007.12:g.150285491T=	NCBI36
NG_008916.1:g.25457A= , LRG_288:g.25457A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1782A=
ENST00000262186.10:c.949A= MANE Select	ENSP00000262186.5:p.Asn317=
ENST00000262186.9:c.949A=	ENSP00000262186.5:p.Asn317=
ENST00000430723.4:c.601A=	ENSP00000387657.4:p.Asn201=
ENST00000532957.5:n.1172A=
NM_000238.3:c.949A= , LRG_288t1:c.949A=	NP_000229.1:p.Asn317=
NM_172056.2:c.949A= , LRG_288t2:c.949A=	NP_742053.1:p.Asn317=
XM_011516185.1:c.649A=	XP_011514487.1:p.Asn217=
XM_011516186.1:c.949A=	XP_011514488.1:p.Asn317=
XM_011516185.2:c.649A=	XP_011514487.1:p.Asn217=
XM_011516186.3:c.949A=	XP_011514488.1:p.Asn317=
XM_017012195.1:c.799A=	XP_016867684.1:p.Asn267=
XM_017012196.1:c.772A=	XP_016867685.1:p.Asn258=
NM_000238.4:c.949A= MANE Select	NP_000229.1:p.Asn317=