Canonical Allele Identifier: CA458871593
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3230724
ClinVar RCV Id: RCV004522839
dbSNP Id: rs1405313438

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952461G>C , CM000669.2:g.150952461G>C GRCh38
NC_000007.13:g.150649549G>C , CM000669.1:g.150649549G>C GRCh37
NC_000007.12:g.150280482G>C NCBI36
NG_008916.1:g.30466C>G , LRG_288:g.30466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.819C>G
ENST00000684116.1:n.414C>G
ENST00000684241.1:n.2354C>G
ENST00000262186.10:c.1521C>G MANE Select ENSP00000262186.5:p.Pro507=
ENST00000330883.9:c.501C>G ENSP00000328531.4:p.Pro167=
ENST00000262186.9:c.1521C>G ENSP00000262186.5:p.Pro507=
ENST00000330883.8:c.501C>G ENSP00000328531.4:p.Pro167=
ENST00000430723.4:c.1173C>G ENSP00000387657.4:p.Pro391=
ENST00000461280.1:n.808C>G
ENST00000473610.5:n.826C>G
ENST00000532957.5:n.1744C>G
NM_000238.3:c.1521C>G , LRG_288t1:c.1521C>G NP_000229.1:p.Pro507=
NM_001204798.1:c.501C>G NP_001191727.1:p.Pro167=
NM_172056.2:c.1521C>G , LRG_288t2:c.1521C>G NP_742053.1:p.Pro507=
NM_172057.2:c.501C>G , LRG_288t3:c.501C>G NP_742054.1:p.Pro167=
XM_011516185.1:c.1221C>G XP_011514487.1:p.Pro407=
XM_011516186.1:c.1521C>G XP_011514488.1:p.Pro507=
XM_011516185.2:c.1221C>G XP_011514487.1:p.Pro407=
XM_011516186.3:c.1521C>G XP_011514488.1:p.Pro507=
XM_017012195.1:c.1371C>G XP_016867684.1:p.Pro457=
XM_017012196.1:c.1344C>G XP_016867685.1:p.Pro448=
NM_000238.4:c.1521C>G MANE Select NP_000229.1:p.Pro507=
NM_001204798.2:c.501C>G NP_001191727.1:p.Pro167=
NM_172057.3:c.501C>G NP_742054.1:p.Pro167=