Canonical Allele Identifier: CA004427
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67182
ClinVar RCV Id: RCV000057889 RCV000181926 RCV000823889
dbSNP Id: rs199472836
MyVariant Identifiers: chr7:g.150671978T>C (hg19) chr7:g.150974890T>C (hg38)
PubMed: PMID:16414944 PMID:21536673 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974890T>C , CM000669.2:g.150974890T>C GRCh38
NC_000007.13:g.150671978T>C , CM000669.1:g.150671978T>C GRCh37
NC_000007.12:g.150302911T>C NCBI36
NG_008916.1:g.8037A>G , LRG_288:g.8037A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.128A>G MANE Select ENSP00000262186.5:p.Tyr43Cys
ENST00000262186.9:c.128A>G ENSP00000262186.5:p.Tyr43Cys
ENST00000430723.4:c.-50A>G ENSP00000387657.4:n.-50A>G
ENST00000532957.5:n.351A>G
NM_000238.3:c.128A>G , LRG_288t1:c.128A>G NP_000229.1:p.Tyr43Cys
NM_172056.2:c.128A>G , LRG_288t2:c.128A>G NP_742053.1:p.Tyr43Cys
XM_011516186.1:c.128A>G XP_011514488.1:p.Tyr43Cys
XM_011516186.3:c.128A>G XP_011514488.1:p.Tyr43Cys
XM_017012196.1:c.-50A>G XP_016867685.1:n.-50A>G
NM_000238.4:c.128A>G MANE Select NP_000229.1:p.Tyr43Cys
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Search 100 bp 3'