Canonical Allele Identifier: CA004552
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67193
ClinVar RCV Id: RCV000057900
dbSNP Id: rs199472904
MyVariant Identifiers: chr7:g.150649683A>G (hg19) chr7:g.150952595A>G (hg38)
PubMed: PMID:19065538 PMID:19100075 PMID:19215240 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952595A>G , CM000669.2:g.150952595A>G GRCh38
NC_000007.13:g.150649683A>G , CM000669.1:g.150649683A>G GRCh37
NC_000007.12:g.150280616A>G NCBI36
NG_008916.1:g.30332T>C , LRG_288:g.30332T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.685T>C
ENST00000684116.1:n.280T>C
ENST00000684241.1:n.2220T>C
ENST00000262186.10:c.1387T>C MANE Select ENSP00000262186.5:p.Phe463Leu
ENST00000330883.9:c.367T>C ENSP00000328531.4:p.Phe123Leu
ENST00000262186.9:c.1387T>C ENSP00000262186.5:p.Phe463Leu
ENST00000330883.8:c.367T>C ENSP00000328531.4:p.Phe123Leu
ENST00000430723.4:c.1039T>C ENSP00000387657.4:p.Phe347Leu
ENST00000461280.1:n.674T>C
ENST00000473610.5:n.692T>C
ENST00000532957.5:n.1610T>C
NM_000238.3:c.1387T>C , LRG_288t1:c.1387T>C NP_000229.1:p.Phe463Leu
NM_001204798.1:c.367T>C NP_001191727.1:p.Phe123Leu
NM_172056.2:c.1387T>C , LRG_288t2:c.1387T>C NP_742053.1:p.Phe463Leu
NM_172057.2:c.367T>C , LRG_288t3:c.367T>C NP_742054.1:p.Phe123Leu
XM_011516185.1:c.1087T>C XP_011514487.1:p.Phe363Leu
XM_011516186.1:c.1387T>C XP_011514488.1:p.Phe463Leu
XM_011516185.2:c.1087T>C XP_011514487.1:p.Phe363Leu
XM_011516186.3:c.1387T>C XP_011514488.1:p.Phe463Leu
XM_017012195.1:c.1237T>C XP_016867684.1:p.Phe413Leu
XM_017012196.1:c.1210T>C XP_016867685.1:p.Phe404Leu
NM_000238.4:c.1387T>C MANE Select NP_000229.1:p.Phe463Leu
NM_001204798.2:c.367T>C NP_001191727.1:p.Phe123Leu
NM_172057.3:c.367T>C NP_742054.1:p.Phe123Leu
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