Canonical Allele Identifier: CA1752432797

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949975G= , CM000669.2:g.150949975G=	GRCh38
NC_000007.13:g.150647063G= , CM000669.1:g.150647063G=	GRCh37
NC_000007.12:g.150277996G=	NCBI36
NG_008916.1:g.32952C= , LRG_288:g.32952C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1889C=
ENST00000684241.1:n.3231+193C=
ENST00000262186.10:c.2398+193C= MANE Select	ENSP00000262186.5:n.2398+193C=
ENST00000330883.9:c.1378+193C=	ENSP00000328531.4:n.1378+193C=
ENST00000262186.9:c.2398+193C=	ENSP00000262186.5:n.2398+193C=
ENST00000330883.8:c.1378+193C=	ENSP00000328531.4:n.1378+193C=
ENST00000430723.4:c.2243C=	ENSP00000387657.4:p.Ala748=
ENST00000461280.1:n.1878C=
ENST00000473610.5:n.2223C=
ENST00000532957.5:n.2814C=
NM_000238.3:c.2398+193C= , LRG_288t1:c.2398+193C=	NP_000229.1:n.2398+193C=
NM_001204798.1:c.1571C=	NP_001191727.1:p.Ala524=
NM_172056.2:c.2591C= , LRG_288t2:c.2591C=	NP_742053.1:p.Ala864=
NM_172057.2:c.1378+193C= , LRG_288t3:c.1378+193C=	NP_742054.1:n.1378+193C=
XM_011516185.1:c.2098+193C=	XP_011514487.1:n.2098+193C=
XM_011516186.1:c.2398+193C=	XP_011514488.1:n.2398+193C=
XM_011516185.2:c.2098+193C=	XP_011514487.1:n.2098+193C=
XM_011516186.3:c.2398+193C=	XP_011514488.1:n.2398+193C=
XM_017012195.1:c.2248+193C=	XP_016867684.1:n.2248+193C=
XM_017012196.1:c.2221+193C=	XP_016867685.1:n.2221+193C=
NM_000238.4:c.2398+193C= MANE Select	NP_000229.1:n.2398+193C=
NM_001204798.2:c.1571C=	NP_001191727.1:p.Ala524=
NM_172057.3:c.1378+193C=	NP_742054.1:n.1378+193C=