Canonical Allele Identifier: CA008553
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67509
ClinVar RCV Id: RCV000058238 RCV000157257 RCV000181761 RCV000199086 RCV000617719 RCV001196177 RCV002222158
dbSNP Id: rs36210422
ExAC: 7:150655537 G / A
gnomAD v2: 7-150655537-G-A
gnomAD v3: 7-150958449-G-A
gnomAD v4: 7-150958449-G-A
MyVariant Identifiers: chr7:g.150655537G>A (hg19) chr7:g.150958449G>A (hg38)
PubMed: PMID:10483966 PMID:10862094 PMID:14661677 PMID:15176425 PMID:15541256 PMID:16754261 PMID:16818214 PMID:17161064 PMID:17222736 PMID:19160088 PMID:19673885 PMID:19841300 PMID:19862833 PMID:20875080 PMID:21244686 PMID:21956039 PMID:22052944 PMID:22067087 PMID:22402074 PMID:22429796 PMID:22581653 PMID:22659597 PMID:22677073 PMID:22949429 PMID:23098067 PMID:23193492 PMID:23303164 PMID:23631430 PMID:24606995 PMID:25351510 PMID:25467552 PMID:25554238 PMID:26063740 PMID:26749013 PMID:27026928 PMID:27064559 PMID:27650965 PMID:28003625 PMID:28255936
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958449G>A , CM000669.2:g.150958449G>A GRCh38
NC_000007.13:g.150655537G>A , CM000669.1:g.150655537G>A GRCh37
NC_000007.12:g.150286470G>A NCBI36
NG_008916.1:g.24478C>T , LRG_288:g.24478C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1359C>T
ENST00000262186.10:c.526C>T MANE Select ENSP00000262186.5:p.Arg176Trp
ENST00000262186.9:c.526C>T ENSP00000262186.5:p.Arg176Trp
ENST00000430723.4:c.235-57C>T ENSP00000387657.4:n.235-57C>T
ENST00000532957.5:n.749C>T
NM_000238.3:c.526C>T , LRG_288t1:c.526C>T NP_000229.1:p.Arg176Trp
NM_172056.2:c.526C>T , LRG_288t2:c.526C>T NP_742053.1:p.Arg176Trp
XM_011516185.1:c.226C>T XP_011514487.1:p.Arg76Trp
XM_011516186.1:c.526C>T XP_011514488.1:p.Arg176Trp
XM_011516185.2:c.226C>T XP_011514487.1:p.Arg76Trp
XM_011516186.3:c.526C>T XP_011514488.1:p.Arg176Trp
XM_017012195.1:c.376C>T XP_016867684.1:p.Arg126Trp
XM_017012196.1:c.349C>T XP_016867685.1:p.Arg117Trp
NM_000238.4:c.526C>T MANE Select NP_000229.1:p.Arg176Trp
Search 100 bp 5'
Search 100 bp 3'