Canonical Allele Identifier: CA361722021

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150070494-C-T
• MyVariant Identifiers: chr5:g.149450057C>T (hg19) ; chr5:g.150070494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150070494C>T , CM000667.2:g.150070494C>T	GRCh38
NC_000005.9:g.149450057C>T , CM000667.1:g.149450057C>T	GRCh37
NC_000005.8:g.149430250C>T	NCBI36
NG_012303.1:g.47879G>A
NG_012303.2:g.47879G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675795.1:c.1160G>A MANE Select	ENSP00000501699.1:p.Gly387Glu
ENST00000286301.7:c.1160G>A	ENSP00000286301.3:p.Gly387Glu
ENST00000504875.5:c.1160G>A	ENSP00000422212.1:p.Gly387Glu
NM_001288705.1:c.1160G>A	NP_001275634.1:p.Gly387Glu
NM_005211.3:c.1160G>A	NP_005202.2:p.Gly387Glu
NR_109969.1:n.1373G>A
NM_001288705.2:c.1160G>A	NP_001275634.1:p.Gly387Glu
NM_001349736.1:c.1160G>A	NP_001336665.1:p.Gly387Glu
NM_001288705.3:c.1160G>A MANE Select	NP_001275634.1:p.Gly387Glu
NM_001375320.1:c.1160G>A	NP_001362249.1:p.Gly387Glu
NM_001375321.1:c.716G>A	NP_001362250.1:p.Gly239Glu
NR_164679.1:n.1216G>A
NM_001349736.2:c.1160G>A	NP_001336665.1:p.Gly387Glu
NM_005211.4:c.1160G>A	NP_005202.2:p.Gly387Glu
NR_109969.2:n.1287G>A