Canonical Allele Identifier: CA1752418150

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958232A= , CM000669.2:g.150958232A=	GRCh38
NC_000007.13:g.150655320A= , CM000669.1:g.150655320A=	GRCh37
NC_000007.12:g.150286253A=	NCBI36
NG_008916.1:g.24695T= , LRG_288:g.24695T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1576T=
ENST00000262186.10:c.743T= MANE Select	ENSP00000262186.5:p.Leu248=
ENST00000262186.9:c.743T=	ENSP00000262186.5:p.Leu248=
ENST00000430723.4:c.395T=	ENSP00000387657.4:p.Leu132=
ENST00000532957.5:n.966T=
NM_000238.3:c.743T= , LRG_288t1:c.743T=	NP_000229.1:p.Leu248=
NM_172056.2:c.743T= , LRG_288t2:c.743T=	NP_742053.1:p.Leu248=
XM_011516185.1:c.443T=	XP_011514487.1:p.Leu148=
XM_011516186.1:c.743T=	XP_011514488.1:p.Leu248=
XM_011516185.2:c.443T=	XP_011514487.1:p.Leu148=
XM_011516186.3:c.743T=	XP_011514488.1:p.Leu248=
XM_017012195.1:c.593T=	XP_016867684.1:p.Leu198=
XM_017012196.1:c.566T=	XP_016867685.1:p.Leu189=
NM_000238.4:c.743T= MANE Select	NP_000229.1:p.Leu248=