Canonical Allele Identifier: CA361722118

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150070506-G-T
• MyVariant Identifiers: chr5:g.149450069G>T (hg19) ; chr5:g.150070506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150070506G>T , CM000667.2:g.150070506G>T	GRCh38
NC_000005.9:g.149450069G>T , CM000667.1:g.149450069G>T	GRCh37
NC_000005.8:g.149430262G>T	NCBI36
NG_012303.1:g.47867C>A
NG_012303.2:g.47867C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1148C>A MANE Select	ENSP00000501699.1:p.Ala383Asp
ENST00000286301.7:c.1148C>A	ENSP00000286301.3:p.Ala383Asp
ENST00000504875.5:c.1148C>A	ENSP00000422212.1:p.Ala383Asp
NM_001288705.1:c.1148C>A	NP_001275634.1:p.Ala383Asp
NM_005211.3:c.1148C>A	NP_005202.2:p.Ala383Asp
NR_109969.1:n.1361C>A
NM_001288705.2:c.1148C>A	NP_001275634.1:p.Ala383Asp
NM_001349736.1:c.1148C>A	NP_001336665.1:p.Ala383Asp
NM_001288705.3:c.1148C>A MANE Select	NP_001275634.1:p.Ala383Asp
NM_001375320.1:c.1148C>A	NP_001362249.1:p.Ala383Asp
NM_001375321.1:c.704C>A	NP_001362250.1:p.Ala235Asp
NR_164679.1:n.1204C>A
NM_001349736.2:c.1148C>A	NP_001336665.1:p.Ala383Asp
NM_005211.4:c.1148C>A	NP_005202.2:p.Ala383Asp
NR_109969.2:n.1275C>A