Canonical Allele Identifier: CA006078
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67345
ClinVar RCV Id: RCV000058065
dbSNP Id: rs199473530
MyVariant Identifiers: chr7:g.150648536A>G (hg19) chr7:g.150951448A>G (hg38)
PubMed: PMID:12566525 PMID:19841300 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951448A>G , CM000669.2:g.150951448A>G GRCh38
NC_000007.13:g.150648536A>G , CM000669.1:g.150648536A>G GRCh37
NC_000007.12:g.150279469A>G NCBI36
NG_008916.1:g.31479T>C , LRG_288:g.31479T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1243T>C
ENST00000683359.1:n.69T>C
ENST00000684241.1:n.2778T>C
ENST00000262186.10:c.1945T>C MANE Select ENSP00000262186.5:p.Ser649Pro
ENST00000330883.9:c.925T>C ENSP00000328531.4:p.Ser309Pro
ENST00000262186.9:c.1945T>C ENSP00000262186.5:p.Ser649Pro
ENST00000330883.8:c.925T>C ENSP00000328531.4:p.Ser309Pro
ENST00000430723.4:c.1597T>C ENSP00000387657.4:p.Ser533Pro
ENST00000461280.1:n.1232T>C
ENST00000473610.5:n.1250T>C
ENST00000532957.5:n.2168T>C
NM_000238.3:c.1945T>C , LRG_288t1:c.1945T>C NP_000229.1:p.Ser649Pro
NM_001204798.1:c.925T>C NP_001191727.1:p.Ser309Pro
NM_172056.2:c.1945T>C , LRG_288t2:c.1945T>C NP_742053.1:p.Ser649Pro
NM_172057.2:c.925T>C , LRG_288t3:c.925T>C NP_742054.1:p.Ser309Pro
XM_011516185.1:c.1645T>C XP_011514487.1:p.Ser549Pro
XM_011516186.1:c.1945T>C XP_011514488.1:p.Ser649Pro
XM_011516185.2:c.1645T>C XP_011514487.1:p.Ser549Pro
XM_011516186.3:c.1945T>C XP_011514488.1:p.Ser649Pro
XM_017012195.1:c.1795T>C XP_016867684.1:p.Ser599Pro
XM_017012196.1:c.1768T>C XP_016867685.1:p.Ser590Pro
NM_000238.4:c.1945T>C MANE Select NP_000229.1:p.Ser649Pro
NM_001204798.2:c.925T>C NP_001191727.1:p.Ser309Pro
NM_172057.3:c.925T>C NP_742054.1:p.Ser309Pro
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