Canonical Allele Identifier: CA361724975

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 1436213
• ClinVar RCV Id: RCV001987257
• dbSNP Id: rs760509901
• MyVariant Identifiers: chr5:g.149453000C>G (hg19) ; chr5:g.150073437C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073437C>G , CM000667.2:g.150073437C>G	GRCh38
NC_000005.9:g.149453000C>G , CM000667.1:g.149453000C>G	GRCh37
NC_000005.8:g.149433193C>G	NCBI36
NG_012303.1:g.44936G>C
NG_012303.2:g.44936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.946G>C MANE Select	ENSP00000501699.1:p.Gly316Arg
ENST00000286301.7:c.946G>C	ENSP00000286301.3:p.Gly316Arg
ENST00000504875.5:c.946G>C	ENSP00000422212.1:p.Gly316Arg
ENST00000543093.1:c.890-2866G>C	ENSP00000445282.1:n.890-2866G>C
NM_001288705.1:c.946G>C	NP_001275634.1:p.Gly316Arg
NM_005211.3:c.946G>C	NP_005202.2:p.Gly316Arg
NR_109969.1:n.1159G>C
NM_001288705.2:c.946G>C	NP_001275634.1:p.Gly316Arg
NM_001349736.1:c.946G>C	NP_001336665.1:p.Gly316Arg
NM_001288705.3:c.946G>C MANE Select	NP_001275634.1:p.Gly316Arg
NM_001375320.1:c.946G>C	NP_001362249.1:p.Gly316Arg
NM_001375321.1:c.502G>C	NP_001362250.1:p.Gly168Arg
NR_164679.1:n.1002G>C
NM_001349736.2:c.946G>C	NP_001336665.1:p.Gly316Arg
NM_005211.4:c.946G>C	NP_005202.2:p.Gly316Arg
NR_109969.2:n.1073G>C