Canonical Allele Identifier: CA004960
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67225
ClinVar RCV Id: RCV003591658
dbSNP Id: rs199472918
ExAC: 7:150648826 A / G
gnomAD v2: 7-150648826-A-G
gnomAD v3: 7-150951738-A-G
gnomAD v4: 7-150951738-A-G
COSMIC: COSM1087288 COSM1596876 COSM4864178
MyVariant Identifiers: chr7:g.150648826A>G (hg19) chr7:g.150951738A>G (hg38)
PubMed: PMID:10483966 PMID:10841244 PMID:10973849 PMID:11854117 PMID:12477631 PMID:12690509 PMID:15176425 PMID:15840476 PMID:19160088 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:25417810 PMID:26332594
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951738A>G , CM000669.2:g.150951738A>G GRCh38
NC_000007.13:g.150648826A>G , CM000669.1:g.150648826A>G GRCh37
NC_000007.12:g.150279759A>G NCBI36
NG_008916.1:g.31189T>C , LRG_288:g.31189T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.953T>C
ENST00000684116.1:n.548T>C
ENST00000684241.1:n.2488T>C
ENST00000262186.10:c.1655T>C MANE Select ENSP00000262186.5:p.Leu552Ser
ENST00000330883.9:c.635T>C ENSP00000328531.4:p.Leu212Ser
ENST00000262186.9:c.1655T>C ENSP00000262186.5:p.Leu552Ser
ENST00000330883.8:c.635T>C ENSP00000328531.4:p.Leu212Ser
ENST00000430723.4:c.1307T>C ENSP00000387657.4:p.Leu436Ser
ENST00000461280.1:n.942T>C
ENST00000473610.5:n.960T>C
ENST00000532957.5:n.1878T>C
NM_000238.3:c.1655T>C , LRG_288t1:c.1655T>C NP_000229.1:p.Leu552Ser
NM_001204798.1:c.635T>C NP_001191727.1:p.Leu212Ser
NM_172056.2:c.1655T>C , LRG_288t2:c.1655T>C NP_742053.1:p.Leu552Ser
NM_172057.2:c.635T>C , LRG_288t3:c.635T>C NP_742054.1:p.Leu212Ser
XM_011516185.1:c.1355T>C XP_011514487.1:p.Leu452Ser
XM_011516186.1:c.1655T>C XP_011514488.1:p.Leu552Ser
XM_011516185.2:c.1355T>C XP_011514487.1:p.Leu452Ser
XM_011516186.3:c.1655T>C XP_011514488.1:p.Leu552Ser
XM_017012195.1:c.1505T>C XP_016867684.1:p.Leu502Ser
XM_017012196.1:c.1478T>C XP_016867685.1:p.Leu493Ser
NM_000238.4:c.1655T>C MANE Select NP_000229.1:p.Leu552Ser
NM_001204798.2:c.635T>C NP_001191727.1:p.Leu212Ser
NM_172057.3:c.635T>C NP_742054.1:p.Leu212Ser
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