Canonical Allele Identifier: CA1752432059

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949010G= , CM000669.2:g.150949010G=	GRCh38
NC_000007.13:g.150646098G= , CM000669.1:g.150646098G=	GRCh37
NC_000007.12:g.150277031G=	NCBI36
NG_008916.1:g.33917C= , LRG_288:g.33917C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3271C=
ENST00000262186.10:c.2438C= MANE Select	ENSP00000262186.5:p.Ala813=
ENST00000330883.9:c.1418C=	ENSP00000328531.4:p.Ala473=
ENST00000262186.9:c.2438C=	ENSP00000262186.5:p.Ala813=
ENST00000330883.8:c.1418C=	ENSP00000328531.4:p.Ala473=
NM_000238.3:c.2438C= , LRG_288t1:c.2438C=	NP_000229.1:p.Ala813=
NM_172057.2:c.1418C= , LRG_288t3:c.1418C=	NP_742054.1:p.Ala473=
XM_011516185.1:c.2138C=	XP_011514487.1:p.Ala713=
XM_011516186.1:c.2438C=	XP_011514488.1:p.Ala813=
XM_011516185.2:c.2138C=	XP_011514487.1:p.Ala713=
XM_011516186.3:c.2438C=	XP_011514488.1:p.Ala813=
XM_017012195.1:c.2288C=	XP_016867684.1:p.Ala763=
XM_017012196.1:c.2261C=	XP_016867685.1:p.Ala754=
NM_000238.4:c.2438C= MANE Select	NP_000229.1:p.Ala813=
NM_172057.3:c.1418C=	NP_742054.1:p.Ala473=