Canonical Allele Identifier: CA007567
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67448
ClinVar RCV Id: RCV000058175
dbSNP Id: rs199472853
MyVariant Identifiers: chr7:g.150671819A>G (hg19) chr7:g.150974731A>G (hg38)
PubMed: PMID:11468227 PMID:11668638 PMID:16937190 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974731A>G , CM000669.2:g.150974731A>G GRCh38
NC_000007.13:g.150671819A>G , CM000669.1:g.150671819A>G GRCh37
NC_000007.12:g.150302752A>G NCBI36
NG_008916.1:g.8196T>C , LRG_288:g.8196T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.287T>C MANE Select ENSP00000262186.5:p.Ile96Thr
ENST00000262186.9:c.287T>C ENSP00000262186.5:p.Ile96Thr
ENST00000430723.4:c.110T>C ENSP00000387657.4:p.Ile37Thr
ENST00000532957.5:n.510T>C
NM_000238.3:c.287T>C , LRG_288t1:c.287T>C NP_000229.1:p.Ile96Thr
NM_172056.2:c.287T>C , LRG_288t2:c.287T>C NP_742053.1:p.Ile96Thr
XM_011516186.1:c.287T>C XP_011514488.1:p.Ile96Thr
XM_011516186.3:c.287T>C XP_011514488.1:p.Ile96Thr
XM_017012196.1:c.110T>C XP_016867685.1:p.Ile37Thr
NM_000238.4:c.287T>C MANE Select NP_000229.1:p.Ile96Thr
Search 100 bp 5'
Search 100 bp 3'