Canonical Allele Identifier: CA006212
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67360
ClinVar RCV Id: RCV000058080 RCV000802656
dbSNP Id: rs199472984
gnomAD v4: 7-150950980-G-A
MyVariant Identifiers: chr7:g.150648068G>A (hg19) chr7:g.150950980G>A (hg38)
PubMed: PMID:16922724 PMID:17275752 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950980G>A , CM000669.2:g.150950980G>A GRCh38
NC_000007.13:g.150648068G>A , CM000669.1:g.150648068G>A GRCh37
NC_000007.12:g.150279001G>A NCBI36
NG_008916.1:g.31947C>T , LRG_288:g.31947C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1384C>T
ENST00000683359.1:n.210C>T
ENST00000684241.1:n.2919C>T
ENST00000262186.10:c.2086C>T MANE Select ENSP00000262186.5:p.Arg696Cys
ENST00000330883.9:c.1066C>T ENSP00000328531.4:p.Arg356Cys
ENST00000262186.9:c.2086C>T ENSP00000262186.5:p.Arg696Cys
ENST00000330883.8:c.1066C>T ENSP00000328531.4:p.Arg356Cys
ENST00000430723.4:c.1738C>T ENSP00000387657.4:p.Arg580Cys
ENST00000461280.1:n.1373C>T
ENST00000473610.5:n.1718C>T
ENST00000532957.5:n.2309C>T
NM_000238.3:c.2086C>T , LRG_288t1:c.2086C>T NP_000229.1:p.Arg696Cys
NM_001204798.1:c.1066C>T NP_001191727.1:p.Arg356Cys
NM_172056.2:c.2086C>T , LRG_288t2:c.2086C>T NP_742053.1:p.Arg696Cys
NM_172057.2:c.1066C>T , LRG_288t3:c.1066C>T NP_742054.1:p.Arg356Cys
XM_011516185.1:c.1786C>T XP_011514487.1:p.Arg596Cys
XM_011516186.1:c.2086C>T XP_011514488.1:p.Arg696Cys
XM_011516185.2:c.1786C>T XP_011514487.1:p.Arg596Cys
XM_011516186.3:c.2086C>T XP_011514488.1:p.Arg696Cys
XM_017012195.1:c.1936C>T XP_016867684.1:p.Arg646Cys
XM_017012196.1:c.1909C>T XP_016867685.1:p.Arg637Cys
NM_000238.4:c.2086C>T MANE Select NP_000229.1:p.Arg696Cys
NM_001204798.2:c.1066C>T NP_001191727.1:p.Arg356Cys
NM_172057.3:c.1066C>T NP_742054.1:p.Arg356Cys
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