Canonical Allele Identifier: CA004747
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67211
ClinVar RCV Id: RCV002514285
dbSNP Id: rs199472841
gnomAD v3: 7-150974868-C-A
gnomAD v4: 7-150974868-C-A
MyVariant Identifiers: chr7:g.150671956C>A (hg19) chr7:g.150974868C>A (hg38)
PubMed: PMID:19340359 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974868C>A , CM000669.2:g.150974868C>A GRCh38
NC_000007.13:g.150671956C>A , CM000669.1:g.150671956C>A GRCh37
NC_000007.12:g.150302889C>A NCBI36
NG_008916.1:g.8059G>T , LRG_288:g.8059G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.150G>T MANE Select ENSP00000262186.5:p.Glu50Asp
ENST00000262186.9:c.150G>T ENSP00000262186.5:p.Glu50Asp
ENST00000430723.4:c.-28G>T ENSP00000387657.4:n.-28G>T
ENST00000532957.5:n.373G>T
NM_000238.3:c.150G>T , LRG_288t1:c.150G>T NP_000229.1:p.Glu50Asp
NM_172056.2:c.150G>T , LRG_288t2:c.150G>T NP_742053.1:p.Glu50Asp
XM_011516186.1:c.150G>T XP_011514488.1:p.Glu50Asp
XM_011516186.3:c.150G>T XP_011514488.1:p.Glu50Asp
XM_017012196.1:c.-28G>T XP_016867685.1:n.-28G>T
NM_000238.4:c.150G>T MANE Select NP_000229.1:p.Glu50Asp
Search 100 bp 5'
Search 100 bp 3'