Canonical Allele Identifier: CA1752431340

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948463G= , CM000669.2:g.150948463G=	GRCh38
NC_000007.13:g.150645551G= , CM000669.1:g.150645551G=	GRCh37
NC_000007.12:g.150276484G=	NCBI36
NG_008916.1:g.34464C= , LRG_288:g.34464C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3506C=
ENST00000262186.10:c.2673C= MANE Select	ENSP00000262186.5:p.Phe891=
ENST00000330883.9:c.1653C=	ENSP00000328531.4:p.Phe551=
ENST00000262186.9:c.2673C=	ENSP00000262186.5:p.Phe891=
ENST00000330883.8:c.1653C=	ENSP00000328531.4:p.Phe551=
NM_000238.3:c.2673C= , LRG_288t1:c.2673C=	NP_000229.1:p.Phe891=
NM_172057.2:c.1653C= , LRG_288t3:c.1653C=	NP_742054.1:p.Phe551=
XM_011516185.1:c.2373C=	XP_011514487.1:p.Phe791=
XM_011516186.1:c.2673C=	XP_011514488.1:p.Phe891=
XM_011516185.2:c.2373C=	XP_011514487.1:p.Phe791=
XM_011516186.3:c.2673C=	XP_011514488.1:p.Phe891=
XM_017012195.1:c.2523C=	XP_016867684.1:p.Phe841=
XM_017012196.1:c.2496C=	XP_016867685.1:p.Phe832=
NM_000238.4:c.2673C= MANE Select	NP_000229.1:p.Phe891=
NM_172057.3:c.1653C=	NP_742054.1:p.Phe551=