Canonical Allele Identifier: CA005345
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14428
ClinVar RCV Id: RCV000015509 RCV000057970 RCV000181815 RCV000537059 RCV002399326
dbSNP Id: rs121912508
gnomAD v4: 7-150951649-G-A
COSMIC: COSM5037422 COSM5037423 COSM5037424
MyVariant Identifiers: chr7:g.150648737G>A (hg19) chr7:g.150951649G>A (hg38)
PubMed: PMID:10220144 PMID:11222472 PMID:12566525 PMID:12877697 PMID:15840476 PMID:19716085 PMID:19841300 PMID:21376840 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951649G>A , CM000669.2:g.150951649G>A GRCh38
NC_000007.13:g.150648737G>A , CM000669.1:g.150648737G>A GRCh37
NC_000007.12:g.150279670G>A NCBI36
NG_008916.1:g.31278C>T , LRG_288:g.31278C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1042C>T
ENST00000684241.1:n.2577C>T
ENST00000262186.10:c.1744C>T MANE Select ENSP00000262186.5:p.Arg582Cys
ENST00000330883.9:c.724C>T ENSP00000328531.4:p.Arg242Cys
ENST00000262186.9:c.1744C>T ENSP00000262186.5:p.Arg582Cys
ENST00000330883.8:c.724C>T ENSP00000328531.4:p.Arg242Cys
ENST00000430723.4:c.1396C>T ENSP00000387657.4:p.Arg466Cys
ENST00000461280.1:n.1031C>T
ENST00000473610.5:n.1049C>T
ENST00000532957.5:n.1967C>T
NM_000238.3:c.1744C>T , LRG_288t1:c.1744C>T NP_000229.1:p.Arg582Cys
NM_001204798.1:c.724C>T NP_001191727.1:p.Arg242Cys
NM_172056.2:c.1744C>T , LRG_288t2:c.1744C>T NP_742053.1:p.Arg582Cys
NM_172057.2:c.724C>T , LRG_288t3:c.724C>T NP_742054.1:p.Arg242Cys
XM_011516185.1:c.1444C>T XP_011514487.1:p.Arg482Cys
XM_011516186.1:c.1744C>T XP_011514488.1:p.Arg582Cys
XM_011516185.2:c.1444C>T XP_011514487.1:p.Arg482Cys
XM_011516186.3:c.1744C>T XP_011514488.1:p.Arg582Cys
XM_017012195.1:c.1594C>T XP_016867684.1:p.Arg532Cys
XM_017012196.1:c.1567C>T XP_016867685.1:p.Arg523Cys
NM_000238.4:c.1744C>T MANE Select NP_000229.1:p.Arg582Cys
NM_001204798.2:c.724C>T NP_001191727.1:p.Arg242Cys
NM_172057.3:c.724C>T NP_742054.1:p.Arg242Cys
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