Canonical Allele Identifier: CA369861523
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957344T>G , CM000669.2:g.150957344T>G GRCh38
NC_000007.13:g.150654432T>G , CM000669.1:g.150654432T>G GRCh37
NC_000007.12:g.150285365T>G NCBI36
NG_008916.1:g.25583A>C , LRG_288:g.25583A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1908A>C
ENST00000262186.10:c.1075A>C MANE Select ENSP00000262186.5:p.Ile359Leu
ENST00000262186.9:c.1075A>C ENSP00000262186.5:p.Ile359Leu
ENST00000430723.4:c.727A>C ENSP00000387657.4:p.Ile243Leu
ENST00000532957.5:n.1298A>C
NM_000238.3:c.1075A>C , LRG_288t1:c.1075A>C NP_000229.1:p.Ile359Leu
NM_172056.2:c.1075A>C , LRG_288t2:c.1075A>C NP_742053.1:p.Ile359Leu
XM_011516185.1:c.775A>C XP_011514487.1:p.Ile259Leu
XM_011516186.1:c.1075A>C XP_011514488.1:p.Ile359Leu
XM_011516185.2:c.775A>C XP_011514487.1:p.Ile259Leu
XM_011516186.3:c.1075A>C XP_011514488.1:p.Ile359Leu
XM_017012195.1:c.925A>C XP_016867684.1:p.Ile309Leu
XM_017012196.1:c.898A>C XP_016867685.1:p.Ile300Leu
NM_000238.4:c.1075A>C MANE Select NP_000229.1:p.Ile359Leu