Canonical Allele Identifier: CA004558
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67194
ClinVar RCV Id: RCV000057901 RCV003162440
dbSNP Id: rs199473511
MyVariant Identifiers: chr7:g.150649674C>A (hg19) chr7:g.150952586C>A (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952586C>A , CM000669.2:g.150952586C>A GRCh38
NC_000007.13:g.150649674C>A , CM000669.1:g.150649674C>A GRCh37
NC_000007.12:g.150280607C>A NCBI36
NG_008916.1:g.30341G>T , LRG_288:g.30341G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.694G>T
ENST00000684116.1:n.289G>T
ENST00000684241.1:n.2229G>T
ENST00000262186.10:c.1396G>T MANE Select ENSP00000262186.5:p.Asp466Tyr
ENST00000330883.9:c.376G>T ENSP00000328531.4:p.Asp126Tyr
ENST00000262186.9:c.1396G>T ENSP00000262186.5:p.Asp466Tyr
ENST00000330883.8:c.376G>T ENSP00000328531.4:p.Asp126Tyr
ENST00000430723.4:c.1048G>T ENSP00000387657.4:p.Asp350Tyr
ENST00000461280.1:n.683G>T
ENST00000473610.5:n.701G>T
ENST00000532957.5:n.1619G>T
NM_000238.3:c.1396G>T , LRG_288t1:c.1396G>T NP_000229.1:p.Asp466Tyr
NM_001204798.1:c.376G>T NP_001191727.1:p.Asp126Tyr
NM_172056.2:c.1396G>T , LRG_288t2:c.1396G>T NP_742053.1:p.Asp466Tyr
NM_172057.2:c.376G>T , LRG_288t3:c.376G>T NP_742054.1:p.Asp126Tyr
XM_011516185.1:c.1096G>T XP_011514487.1:p.Asp366Tyr
XM_011516186.1:c.1396G>T XP_011514488.1:p.Asp466Tyr
XM_011516185.2:c.1096G>T XP_011514487.1:p.Asp366Tyr
XM_011516186.3:c.1396G>T XP_011514488.1:p.Asp466Tyr
XM_017012195.1:c.1246G>T XP_016867684.1:p.Asp416Tyr
XM_017012196.1:c.1219G>T XP_016867685.1:p.Asp407Tyr
NM_000238.4:c.1396G>T MANE Select NP_000229.1:p.Asp466Tyr
NM_001204798.2:c.376G>T NP_001191727.1:p.Asp126Tyr
NM_172057.3:c.376G>T NP_742054.1:p.Asp126Tyr
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