Canonical Allele Identifier: CA3038318
Gene: OSTC HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.108650662A>G
GRCh37 chr4:g.109571818A>G
Revel Score:
ENST00000361564 (MANE Select) 0.031
ENST00000512478 0.031
gnomAD v2:
4:109571818 A / G
gnomAD v3:
4:108650662 A / G
gnomAD v4:
chr4-108650662-A-G
Joint Max Group AF 0.00033412 (AFR)
Genomes Max Group AF 0.00026143 (AFR)
Exomes Max Group AF 0.0003227 (AFR)
ClinVar RCV:
RCV004241018
ClinVar Variation:
2403292
dbSNP:
773291437
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108650662A>G , CM000666.2:g.108650662A>G GRCh38
NC_000004.11:g.109571818A>G , CM000666.1:g.109571818A>G GRCh37
NC_000004.10:g.109791267A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361564.9:c.7A>G MANE Select ENSP00000354676.4:p.Thr3Ala
ENST00000361564.8:c.7A>G ENSP00000354676.4:p.Thr3Ala
ENST00000505745.1:n.30A>G
ENST00000510556.1:n.36A>G
ENST00000512478.2:c.7A>G ENSP00000426167.2:p.Thr3Ala
ENST00000613215.4:c.7A>G ENSP00000478564.1:p.Thr3Ala
NM_001267817.1:c.7A>G NP_001254746.1:p.Thr3Ala
NM_001267818.1:c.7A>G NP_001254747.1:p.Thr3Ala
NM_021227.3:c.7A>G NP_067050.1:p.Thr3Ala
NM_021227.4:c.7A>G MANE Select NP_067050.1:p.Thr3Ala
NM_001267818.2:c.7A>G NP_001254747.1:p.Thr3Ala
NM_001267817.2:c.7A>G NP_001254746.1:p.Thr3Ala
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