Canonical Allele Identifier: CA006562
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67392
ClinVar RCV Id: RCV000058114
dbSNP Id: rs199473037
MyVariant Identifiers: chr7:g.150671868C>G (hg19) chr7:g.150974780C>G (hg38)
PubMed: PMID:21496174 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974780C>G , CM000669.2:g.150974780C>G GRCh38
NC_000007.13:g.150671868C>G , CM000669.1:g.150671868C>G GRCh37
NC_000007.12:g.150302801C>G NCBI36
NG_008916.1:g.8147G>C , LRG_288:g.8147G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.238G>C MANE Select ENSP00000262186.5:p.Ala80Pro
ENST00000262186.9:c.238G>C ENSP00000262186.5:p.Ala80Pro
ENST00000430723.4:c.61G>C ENSP00000387657.4:p.Ala21Pro
ENST00000532957.5:n.461G>C
NM_000238.3:c.238G>C , LRG_288t1:c.238G>C NP_000229.1:p.Ala80Pro
NM_172056.2:c.238G>C , LRG_288t2:c.238G>C NP_742053.1:p.Ala80Pro
XM_011516186.1:c.238G>C XP_011514488.1:p.Ala80Pro
XM_011516186.3:c.238G>C XP_011514488.1:p.Ala80Pro
XM_017012196.1:c.61G>C XP_016867685.1:p.Ala21Pro
NM_000238.4:c.238G>C MANE Select NP_000229.1:p.Ala80Pro
Search 100 bp 5'
Search 100 bp 3'