Canonical Allele Identifier: CA12947552
Gene: CD274 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.5467955G>A
GRCh37 chr9:g.5467955G>A
gnomAD v2:
9:5467955 G / A
gnomAD v3:
9:5467955 G / A
gnomAD v4:
chr9-5467955-G-A
Joint Max Group AF 0.79274979 (EAS)
Genomes Max Group AF 0.78379323 (EAS)
Exomes Max Group AF 0.7916717 (EAS)
ClinVar RCV:
RCV001657662
ClinVar Variation:
1251725
dbSNP:
2297136
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5467955G>A , CM000671.2:g.5467955G>A GRCh38
NC_000009.11:g.5467955G>A , CM000671.1:g.5467955G>A GRCh37
NC_000009.10:g.5457955G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381577.4:c.*93G>A MANE Select ENSP00000370989.3:n.*93G>A
ENST00000381573.8:c.*93G>A ENSP00000370985.4:n.*93G>A
ENST00000381577.3:c.*93G>A ENSP00000370989.3:n.*93G>A
NM_001267706.1:c.*93G>A NP_001254635.1:n.*93G>A
NM_014143.3:c.*93G>A NP_054862.1:n.*93G>A
NR_052005.1:n.901G>A
NM_014143.4:c.*93G>A MANE Select NP_054862.1:n.*93G>A
NR_052005.2:n.862G>A
NM_001267706.2:c.*93G>A NP_001254635.1:n.*93G>A
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