Canonical Allele Identifier: CA346096
Gene: CSF1R HGNC NCBI

Linked Data

ClinVar Variation Id: 162125
ClinVar RCV Id: RCV000149537
dbSNP Id: rs690016561
MyVariant Identifiers: chr5:g.149435846T>G (hg19) chr5:g.150056283T>G (hg38)
PubMed: PMID:22934315 PMID:23411710
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150056283T>G , CM000667.2:g.150056283T>G GRCh38
NC_000005.9:g.149435846T>G , CM000667.1:g.149435846T>G GRCh37
NC_000005.8:g.149416039T>G NCBI36
NG_012303.1:g.62090A>C
NG_012303.2:g.62090A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000675795.1:c.2378A>C MANE Select ENSP00000501699.1:p.Lys793Thr
ENST00000286301.7:c.2378A>C ENSP00000286301.3:p.Lys793Thr
ENST00000504875.5:c.*199A>C ENSP00000422212.1:n.*199A>C
ENST00000515068.1:c.547A>C ENSP00000427545.1:n.547A>C
NM_001288705.1:c.2378A>C NP_001275634.1:p.Lys793Thr
NM_005211.3:c.2378A>C NP_005202.2:p.Lys793Thr
NR_109969.1:n.2428A>C
NM_001288705.2:c.2378A>C NP_001275634.1:p.Lys793Thr
NM_001349736.1:c.2378A>C NP_001336665.1:p.Lys793Thr
NM_001288705.3:c.2378A>C MANE Select NP_001275634.1:p.Lys793Thr
NM_001375320.1:c.2378A>C NP_001362249.1:p.Lys793Thr
NM_001375321.1:c.1934A>C NP_001362250.1:p.Lys645Thr
NR_164679.1:n.2271A>C
NM_001349736.2:c.2378A>C NP_001336665.1:p.Lys793Thr
NM_005211.4:c.2378A>C NP_005202.2:p.Lys793Thr
NR_109969.2:n.2342A>C
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