Canonical Allele Identifier: CA369855916
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1355531894

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950135T>C , CM000669.2:g.150950135T>C GRCh38
NC_000007.13:g.150647223T>C , CM000669.1:g.150647223T>C GRCh37
NC_000007.12:g.150278156T>C NCBI36
NG_008916.1:g.32792A>G , LRG_288:g.32792A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1729A>G
ENST00000684241.1:n.3231+33A>G
ENST00000262186.10:c.2398+33A>G MANE Select ENSP00000262186.5:n.2398+33A>G
ENST00000330883.9:c.1378+33A>G ENSP00000328531.4:n.1378+33A>G
ENST00000262186.9:c.2398+33A>G ENSP00000262186.5:n.2398+33A>G
ENST00000330883.8:c.1378+33A>G ENSP00000328531.4:n.1378+33A>G
ENST00000430723.4:c.2083A>G ENSP00000387657.4:p.Met695Val
ENST00000461280.1:n.1718A>G
ENST00000473610.5:n.2063A>G
ENST00000532957.5:n.2654A>G
NM_000238.3:c.2398+33A>G , LRG_288t1:c.2398+33A>G NP_000229.1:n.2398+33A>G
NM_001204798.1:c.1411A>G NP_001191727.1:p.Met471Val
NM_172056.2:c.2431A>G , LRG_288t2:c.2431A>G NP_742053.1:p.Met811Val
NM_172057.2:c.1378+33A>G , LRG_288t3:c.1378+33A>G NP_742054.1:n.1378+33A>G
XM_011516185.1:c.2098+33A>G XP_011514487.1:n.2098+33A>G
XM_011516186.1:c.2398+33A>G XP_011514488.1:n.2398+33A>G
XM_011516185.2:c.2098+33A>G XP_011514487.1:n.2098+33A>G
XM_011516186.3:c.2398+33A>G XP_011514488.1:n.2398+33A>G
XM_017012195.1:c.2248+33A>G XP_016867684.1:n.2248+33A>G
XM_017012196.1:c.2221+33A>G XP_016867685.1:n.2221+33A>G
NM_000238.4:c.2398+33A>G MANE Select NP_000229.1:n.2398+33A>G
NM_001204798.2:c.1411A>G NP_001191727.1:p.Met471Val
NM_172057.3:c.1378+33A>G NP_742054.1:n.1378+33A>G