Canonical Allele Identifier: CA006746
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67399
ClinVar RCV Id: RCV000058121 RCV000702044 RCV000714904 RCV002470747
dbSNP Id: rs199472849
gnomAD v4: 7-150974775-C-G
MyVariant Identifiers: chr7:g.150671863C>G (hg19) chr7:g.150974775C>G (hg38)
PubMed: PMID:20167303 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974775C>G , CM000669.2:g.150974775C>G GRCh38
NC_000007.13:g.150671863C>G , CM000669.1:g.150671863C>G GRCh37
NC_000007.12:g.150302796C>G NCBI36
NG_008916.1:g.8152G>C , LRG_288:g.8152G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.243G>C MANE Select ENSP00000262186.5:p.Gln81His
ENST00000262186.9:c.243G>C ENSP00000262186.5:p.Gln81His
ENST00000430723.4:c.66G>C ENSP00000387657.4:p.Gln22His
ENST00000532957.5:n.466G>C
NM_000238.3:c.243G>C , LRG_288t1:c.243G>C NP_000229.1:p.Gln81His
NM_172056.2:c.243G>C , LRG_288t2:c.243G>C NP_742053.1:p.Gln81His
XM_011516186.1:c.243G>C XP_011514488.1:p.Gln81His
XM_011516186.3:c.243G>C XP_011514488.1:p.Gln81His
XM_017012196.1:c.66G>C XP_016867685.1:p.Gln22His
NM_000238.4:c.243G>C MANE Select NP_000229.1:p.Gln81His
Search 100 bp 5'
Search 100 bp 3'