Canonical Allele Identifier: CA008920
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67536
ClinVar RCV Id: RCV000058265
dbSNP Id: rs199472831
MyVariant Identifiers: chr7:g.150672020A>G (hg19) chr7:g.150974932A>G (hg38)
PubMed: PMID:19841298 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974932A>G , CM000669.2:g.150974932A>G GRCh38
NC_000007.13:g.150672020A>G , CM000669.1:g.150672020A>G GRCh37
NC_000007.12:g.150302953A>G NCBI36
NG_008916.1:g.7995T>C , LRG_288:g.7995T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.86T>C MANE Select ENSP00000262186.5:p.Phe29Ser
ENST00000262186.9:c.86T>C ENSP00000262186.5:p.Phe29Ser
ENST00000430723.4:c.-92T>C ENSP00000387657.4:n.-92T>C
ENST00000532957.5:n.309T>C
NM_000238.3:c.86T>C , LRG_288t1:c.86T>C NP_000229.1:p.Phe29Ser
NM_172056.2:c.86T>C , LRG_288t2:c.86T>C NP_742053.1:p.Phe29Ser
XM_011516186.1:c.86T>C XP_011514488.1:p.Phe29Ser
XM_011516186.3:c.86T>C XP_011514488.1:p.Phe29Ser
XM_017012196.1:c.-92T>C XP_016867685.1:n.-92T>C
NM_000238.4:c.86T>C MANE Select NP_000229.1:p.Phe29Ser
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