Canonical Allele Identifier: CA369855924
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950138C>G , CM000669.2:g.150950138C>G GRCh38
NC_000007.13:g.150647226C>G , CM000669.1:g.150647226C>G GRCh37
NC_000007.12:g.150278159C>G NCBI36
NG_008916.1:g.32789G>C , LRG_288:g.32789G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1726G>C
ENST00000684241.1:n.3231+30G>C
ENST00000262186.10:c.2398+30G>C MANE Select ENSP00000262186.5:n.2398+30G>C
ENST00000330883.9:c.1378+30G>C ENSP00000328531.4:n.1378+30G>C
ENST00000262186.9:c.2398+30G>C ENSP00000262186.5:n.2398+30G>C
ENST00000330883.8:c.1378+30G>C ENSP00000328531.4:n.1378+30G>C
ENST00000430723.4:c.2080G>C ENSP00000387657.4:p.Glu694Gln
ENST00000461280.1:n.1715G>C
ENST00000473610.5:n.2060G>C
ENST00000532957.5:n.2651G>C
NM_000238.3:c.2398+30G>C , LRG_288t1:c.2398+30G>C NP_000229.1:n.2398+30G>C
NM_001204798.1:c.1408G>C NP_001191727.1:p.Glu470Gln
NM_172056.2:c.2428G>C , LRG_288t2:c.2428G>C NP_742053.1:p.Glu810Gln
NM_172057.2:c.1378+30G>C , LRG_288t3:c.1378+30G>C NP_742054.1:n.1378+30G>C
XM_011516185.1:c.2098+30G>C XP_011514487.1:n.2098+30G>C
XM_011516186.1:c.2398+30G>C XP_011514488.1:n.2398+30G>C
XM_011516185.2:c.2098+30G>C XP_011514487.1:n.2098+30G>C
XM_011516186.3:c.2398+30G>C XP_011514488.1:n.2398+30G>C
XM_017012195.1:c.2248+30G>C XP_016867684.1:n.2248+30G>C
XM_017012196.1:c.2221+30G>C XP_016867685.1:n.2221+30G>C
NM_000238.4:c.2398+30G>C MANE Select NP_000229.1:n.2398+30G>C
NM_001204798.2:c.1408G>C NP_001191727.1:p.Glu470Gln
NM_172057.3:c.1378+30G>C NP_742054.1:n.1378+30G>C