Canonical Allele Identifier: CA007279
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200573
ClinVar RCV Id: RCV001219813 RCV001842840
dbSNP Id: rs563611707
ExAC: 7:150671832 G / A
gnomAD v2: 7-150671832-G-A
gnomAD v3: 7-150974744-G-A
gnomAD v4: 7-150974744-G-A
MyVariant Identifiers: chr7:g.150671832G>A (hg19) chr7:g.150974744G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974744G>A , CM000669.2:g.150974744G>A GRCh38
NC_000007.13:g.150671832G>A , CM000669.1:g.150671832G>A GRCh37
NC_000007.12:g.150302765G>A NCBI36
NG_008916.1:g.8183C>T , LRG_288:g.8183C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.274C>T MANE Select ENSP00000262186.5:p.Arg92Cys
ENST00000262186.9:c.274C>T ENSP00000262186.5:p.Arg92Cys
ENST00000430723.4:c.97C>T ENSP00000387657.4:p.Arg33Cys
ENST00000532957.5:n.497C>T
NM_000238.3:c.274C>T , LRG_288t1:c.274C>T NP_000229.1:p.Arg92Cys
NM_172056.2:c.274C>T , LRG_288t2:c.274C>T NP_742053.1:p.Arg92Cys
XM_011516186.1:c.274C>T XP_011514488.1:p.Arg92Cys
XM_011516186.3:c.274C>T XP_011514488.1:p.Arg92Cys
XM_017012196.1:c.97C>T XP_016867685.1:p.Arg33Cys
NM_000238.4:c.274C>T MANE Select NP_000229.1:p.Arg92Cys
Search 100 bp 5'
Search 100 bp 3'