Canonical Allele Identifier: CA1752428433

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947346A= , CM000669.2:g.150947346A=	GRCh38
NC_000007.13:g.150644434A= , CM000669.1:g.150644434A=	GRCh37
NC_000007.12:g.150275367A=	NCBI36
NG_008916.1:g.35581T= , LRG_288:g.35581T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3967T=
ENST00000262186.10:c.3134T= MANE Select	ENSP00000262186.5:p.Leu1045=
ENST00000330883.9:c.2114T=	ENSP00000328531.4:p.Leu705=
ENST00000262186.9:c.3134T=	ENSP00000262186.5:p.Leu1045=
ENST00000330883.8:c.2114T=	ENSP00000328531.4:p.Leu705=
NM_000238.3:c.3134T= , LRG_288t1:c.3134T=	NP_000229.1:p.Leu1045=
NM_172057.2:c.2114T= , LRG_288t3:c.2114T=	NP_742054.1:p.Leu705=
XM_011516185.1:c.2834T=	XP_011514487.1:p.Leu945=
XM_011516185.2:c.2834T=	XP_011514487.1:p.Leu945=
XM_017012195.1:c.2984T=	XP_016867684.1:p.Leu995=
XM_017012196.1:c.2957T=	XP_016867685.1:p.Leu986=
NM_000238.4:c.3134T= MANE Select	NP_000229.1:p.Leu1045=
NM_172057.3:c.2114T=	NP_742054.1:p.Leu705=