Canonical Allele Identifier: CA3506944
Gene: CSF1R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 352157
ClinVar RCV Id: RCV000280124
dbSNP Id: rs10079250

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150070569T>C , CM000667.2:g.150070569T>C GRCh38
NC_000005.9:g.149450132T>C , CM000667.1:g.149450132T>C GRCh37
NC_000005.8:g.149430325T>C NCBI36
NG_012303.1:g.47804A>G
NG_012303.2:g.47804A>G

Transcript Alleles

HGVS Amino-acid change
NM_001288705.1:c.1085A>G VV NP_001275634.1:p.His362Arg
NM_005211.3:c.1085A>G VV NP_005202.2:p.His362Arg
NR_109969.1:n.1298A>G
NM_001288705.2:c.1085A>G VV NP_001275634.1:p.His362Arg
NM_001349736.1:c.1085A>G VV NP_001336665.1:p.His362Arg
ENST00000286301.7:c.1085A>G ENSP00000286301.3:p.His362Arg
ENST00000504875.5:c.1085A>G ENSP00000422212.1:p.His362Arg
ENST00000543093.1:n.892A>G ENSP00000445282.1:p.Thr298Ala