Canonical Allele Identifier: CA1752431903

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948912G= , CM000669.2:g.150948912G=	GRCh38
NC_000007.13:g.150646000G= , CM000669.1:g.150646000G=	GRCh37
NC_000007.12:g.150276933G=	NCBI36
NG_008916.1:g.34015C= , LRG_288:g.34015C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2536C= MANE Select	NP_000229.1:p.Pro846=
ENST00000262186.10:c.2536C= MANE Select	ENSP00000262186.5:p.Pro846=
NM_000238.3:c.2536C= , LRG_288t1:c.2536C=	NP_000229.1:p.Pro846=
NM_172057.2:c.1516C= , LRG_288t3:c.1516C=	NP_742054.1:p.Pro506=
NM_172057.3:c.1516C=	NP_742054.1:p.Pro506=
ENST00000262186.9:c.2536C=	ENSP00000262186.5:p.Pro846=
ENST00000330883.8:c.1516C=	ENSP00000328531.4:p.Pro506=
ENST00000330883.9:c.1516C=	ENSP00000328531.4:p.Pro506=
ENST00000684241.1:n.3369C=
XM_011516185.1:c.2236C=	XP_011514487.1:p.Pro746=
XM_011516185.2:c.2236C=	XP_011514487.1:p.Pro746=
XM_011516186.1:c.2536C=	XP_011514488.1:p.Pro846=
XM_011516186.3:c.2536C=	XP_011514488.1:p.Pro846=
XM_017012195.1:c.2386C=	XP_016867684.1:p.Pro796=
XM_017012196.1:c.2359C=	XP_016867685.1:p.Pro787=