Canonical Allele Identifier: CA004543
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67192
ClinVar RCV Id: RCV000057899
dbSNP Id: rs199472903
MyVariant Identifiers: chr7:g.150649692C>A (hg19) chr7:g.150952604C>A (hg38)
PubMed: PMID:16414944 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952604C>A , CM000669.2:g.150952604C>A GRCh38
NC_000007.13:g.150649692C>A , CM000669.1:g.150649692C>A GRCh37
NC_000007.12:g.150280625C>A NCBI36
NG_008916.1:g.30323G>T , LRG_288:g.30323G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.676G>T
ENST00000684116.1:n.271G>T
ENST00000684241.1:n.2211G>T
ENST00000262186.10:c.1378G>T MANE Select ENSP00000262186.5:p.Asp460Tyr
ENST00000330883.9:c.358G>T ENSP00000328531.4:p.Asp120Tyr
ENST00000262186.9:c.1378G>T ENSP00000262186.5:p.Asp460Tyr
ENST00000330883.8:c.358G>T ENSP00000328531.4:p.Asp120Tyr
ENST00000430723.4:c.1030G>T ENSP00000387657.4:p.Asp344Tyr
ENST00000461280.1:n.665G>T
ENST00000473610.5:n.683G>T
ENST00000532957.5:n.1601G>T
NM_000238.3:c.1378G>T , LRG_288t1:c.1378G>T NP_000229.1:p.Asp460Tyr
NM_001204798.1:c.358G>T NP_001191727.1:p.Asp120Tyr
NM_172056.2:c.1378G>T , LRG_288t2:c.1378G>T NP_742053.1:p.Asp460Tyr
NM_172057.2:c.358G>T , LRG_288t3:c.358G>T NP_742054.1:p.Asp120Tyr
XM_011516185.1:c.1078G>T XP_011514487.1:p.Asp360Tyr
XM_011516186.1:c.1378G>T XP_011514488.1:p.Asp460Tyr
XM_011516185.2:c.1078G>T XP_011514487.1:p.Asp360Tyr
XM_011516186.3:c.1378G>T XP_011514488.1:p.Asp460Tyr
XM_017012195.1:c.1228G>T XP_016867684.1:p.Asp410Tyr
XM_017012196.1:c.1201G>T XP_016867685.1:p.Asp401Tyr
NM_000238.4:c.1378G>T MANE Select NP_000229.1:p.Asp460Tyr
NM_001204798.2:c.358G>T NP_001191727.1:p.Asp120Tyr
NM_172057.3:c.358G>T NP_742054.1:p.Asp120Tyr
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