Canonical Allele Identifier: CA346106
Gene: CSF1R HGNC NCBI

Linked Data

ClinVar Variation Id: 162130
ClinVar RCV Id: RCV000149542
dbSNP Id: rs690016566
MyVariant Identifiers: chr5:g.149436875C>T (hg19) chr5:g.150057312C>T (hg38)
PubMed: PMID:22934315 PMID:24336230
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150057312C>T , CM000667.2:g.150057312C>T GRCh38
NC_000005.9:g.149436875C>T , CM000667.1:g.149436875C>T GRCh37
NC_000005.8:g.149417068C>T NCBI36
NG_012303.1:g.61061G>A
NG_012303.2:g.61061G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000675795.1:c.2294G>A MANE Select ENSP00000501699.1:p.Gly765Asp
ENST00000286301.7:c.2294G>A ENSP00000286301.3:p.Gly765Asp
ENST00000504875.5:c.*115G>A ENSP00000422212.1:n.*115G>A
ENST00000515068.1:c.463G>A ENSP00000427545.1:n.463G>A
NM_001288705.1:c.2294G>A NP_001275634.1:p.Gly765Asp
NM_005211.3:c.2294G>A NP_005202.2:p.Gly765Asp
NR_109969.1:n.2344G>A
NM_001288705.2:c.2294G>A NP_001275634.1:p.Gly765Asp
NM_001349736.1:c.2294G>A NP_001336665.1:p.Gly765Asp
NM_001288705.3:c.2294G>A MANE Select NP_001275634.1:p.Gly765Asp
NM_001375320.1:c.2294G>A NP_001362249.1:p.Gly765Asp
NM_001375321.1:c.1850G>A NP_001362250.1:p.Gly617Asp
NR_164679.1:n.2187G>A
NM_001349736.2:c.2294G>A NP_001336665.1:p.Gly765Asp
NM_005211.4:c.2294G>A NP_005202.2:p.Gly765Asp
NR_109969.2:n.2258G>A
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