Canonical Allele Identifier: CA1752433230
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950152G= , CM000669.2:g.150950152G= GRCh38
NC_000007.13:g.150647240G= , CM000669.1:g.150647240G= GRCh37
NC_000007.12:g.150278173G= NCBI36
NG_008916.1:g.32775C= , LRG_288:g.32775C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1712C=
ENST00000684241.1:n.3231+16C=
ENST00000262186.10:c.2398+16C= MANE Select ENSP00000262186.5:n.2398+16C=
ENST00000330883.9:c.1378+16C= ENSP00000328531.4:n.1378+16C=
ENST00000262186.9:c.2398+16C= ENSP00000262186.5:n.2398+16C=
ENST00000330883.8:c.1378+16C= ENSP00000328531.4:n.1378+16C=
ENST00000430723.4:c.2066C= ENSP00000387657.4:p.Ala689=
ENST00000461280.1:n.1701C=
ENST00000473610.5:n.2046C=
ENST00000532957.5:n.2637C=
NM_000238.3:c.2398+16C= , LRG_288t1:c.2398+16C= NP_000229.1:n.2398+16C=
NM_001204798.1:c.1394C= NP_001191727.1:p.Ala465=
NM_172056.2:c.2414C= , LRG_288t2:c.2414C= NP_742053.1:p.Ala805=
NM_172057.2:c.1378+16C= , LRG_288t3:c.1378+16C= NP_742054.1:n.1378+16C=
XM_011516185.1:c.2098+16C= XP_011514487.1:n.2098+16C=
XM_011516186.1:c.2398+16C= XP_011514488.1:n.2398+16C=
XM_011516185.2:c.2098+16C= XP_011514487.1:n.2098+16C=
XM_011516186.3:c.2398+16C= XP_011514488.1:n.2398+16C=
XM_017012195.1:c.2248+16C= XP_016867684.1:n.2248+16C=
XM_017012196.1:c.2221+16C= XP_016867685.1:n.2221+16C=
NM_000238.4:c.2398+16C= MANE Select NP_000229.1:n.2398+16C=
NM_001204798.2:c.1394C= NP_001191727.1:p.Ala465=
NM_172057.3:c.1378+16C= NP_742054.1:n.1378+16C=