Canonical Allele Identifier: CA447156450
Gene: CSF1R HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149436883T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150057320T>G , CM000667.2:g.150057320T>G GRCh38
NC_000005.9:g.149436883T>G , CM000667.1:g.149436883T>G GRCh37
NC_000005.8:g.149417076T>G NCBI36
NG_012303.1:g.61053A>C
NG_012303.2:g.61053A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675795.1:c.2286A>C MANE Select ENSP00000501699.1:p.Val762=
ENST00000286301.7:c.2286A>C ENSP00000286301.3:p.Val762=
ENST00000504875.5:c.*107A>C ENSP00000422212.1:n.*107A>C
ENST00000515068.1:c.455A>C ENSP00000427545.1:n.455A>C
NM_001288705.1:c.2286A>C NP_001275634.1:p.Val762=
NM_005211.3:c.2286A>C NP_005202.2:p.Val762=
NR_109969.1:n.2336A>C
NM_001288705.2:c.2286A>C NP_001275634.1:p.Val762=
NM_001349736.1:c.2286A>C NP_001336665.1:p.Val762=
NM_001288705.3:c.2286A>C MANE Select NP_001275634.1:p.Val762=
NM_001375320.1:c.2286A>C NP_001362249.1:p.Val762=
NM_001375321.1:c.1842A>C NP_001362250.1:p.Val614=
NR_164679.1:n.2179A>C
NM_001349736.2:c.2286A>C NP_001336665.1:p.Val762=
NM_005211.4:c.2286A>C NP_005202.2:p.Val762=
NR_109969.2:n.2250A>C