Canonical Allele Identifier: CA346143852
Gene: OST4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.27071436G>C
GRCh37 chr2:g.27294304G>C
gnomAD v4:
chr2-27071436-G-C
Joint Max Group AF 0.00000558 (NFE)
Exomes Max Group AF 0.00000593 (NFE)
ClinVar RCV:
RCV004166362
ClinVar Variation:
2320219
dbSNP:
1669268837
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27071436G>C , CM000664.2:g.27071436G>C GRCh38
NC_000002.11:g.27294304G>C , CM000664.1:g.27294304G>C GRCh37
NC_000002.10:g.27147808G>C NCBI36
NG_052914.1:g.25014G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456793.2:c.27C>G MANE Select ENSP00000457935.1:p.Ile9Met
ENST00000429985.1:c.27C>G ENSP00000455716.1:p.Ile9Met
ENST00000447619.5:c.27C>G ENSP00000454411.1:p.Ile9Met
ENST00000456793.1:c.27C>G ENSP00000457935.1:p.Ile9Met
NM_001134693.1:c.27C>G NP_001128165.1:p.Ile9Met
NM_001134693.2:c.27C>G MANE Select NP_001128165.1:p.Ile9Met
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