Canonical Allele Identifier: CA169075715
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171063
dbSNP Id: rs1002588450

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950183C>T , CM000669.2:g.150950183C>T GRCh38
NC_000007.13:g.150647271C>T , CM000669.1:g.150647271C>T GRCh37
NC_000007.12:g.150278204C>T NCBI36
NG_008916.1:g.32744G>A , LRG_288:g.32744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1681G>A
ENST00000684241.1:n.3216G>A
ENST00000262186.10:c.2383G>A MANE Select ENSP00000262186.5:p.Val795Ile
ENST00000330883.9:c.1363G>A ENSP00000328531.4:p.Val455Ile
ENST00000262186.9:c.2383G>A ENSP00000262186.5:p.Val795Ile
ENST00000330883.8:c.1363G>A ENSP00000328531.4:p.Val455Ile
ENST00000430723.4:c.2035G>A ENSP00000387657.4:p.Val679Ile
ENST00000461280.1:n.1670G>A
ENST00000473610.5:n.2015G>A
ENST00000532957.5:n.2606G>A
NM_000238.3:c.2383G>A , LRG_288t1:c.2383G>A NP_000229.1:p.Val795Ile
NM_001204798.1:c.1363G>A NP_001191727.1:p.Val455Ile
NM_172056.2:c.2383G>A , LRG_288t2:c.2383G>A NP_742053.1:p.Val795Ile
NM_172057.2:c.1363G>A , LRG_288t3:c.1363G>A NP_742054.1:p.Val455Ile
XM_011516185.1:c.2083G>A XP_011514487.1:p.Val695Ile
XM_011516186.1:c.2383G>A XP_011514488.1:p.Val795Ile
XM_011516185.2:c.2083G>A XP_011514487.1:p.Val695Ile
XM_011516186.3:c.2383G>A XP_011514488.1:p.Val795Ile
XM_017012195.1:c.2233G>A XP_016867684.1:p.Val745Ile
XM_017012196.1:c.2206G>A XP_016867685.1:p.Val736Ile
NM_000238.4:c.2383G>A MANE Select NP_000229.1:p.Val795Ile
NM_001204798.2:c.1363G>A NP_001191727.1:p.Val455Ile
NM_172057.3:c.1363G>A NP_742054.1:p.Val455Ile