Canonical Allele Identifier: CA346075

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150056039C>G , CM000667.2:g.150056039C>G	GRCh38
NC_000005.9:g.149435602C>G , CM000667.1:g.149435602C>G	GRCh37
NC_000005.8:g.149415795C>G	NCBI36
NG_012303.1:g.62334G>C
NG_012303.2:g.62334G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001288705.3:c.2541G>C MANE Select	NP_001275634.1:p.Glu847Asp
ENST00000675795.1:c.2541G>C MANE Select	ENSP00000501699.1:p.Glu847Asp
NM_001288705.1:c.2541G>C	NP_001275634.1:p.Glu847Asp
NM_001288705.2:c.2541G>C	NP_001275634.1:p.Glu847Asp
NM_001349736.1:c.2541G>C	NP_001336665.1:p.Glu847Asp
NM_001349736.2:c.2541G>C	NP_001336665.1:p.Glu847Asp
NM_001375320.1:c.2541G>C	NP_001362249.1:p.Glu847Asp
NM_001375321.1:c.2097G>C	NP_001362250.1:p.Glu699Asp
NM_005211.3:c.2541G>C	NP_005202.2:p.Glu847Asp
NM_005211.4:c.2541G>C	NP_005202.2:p.Glu847Asp
NR_109969.1:n.2591G>C
NR_109969.2:n.2505G>C
NR_164679.1:n.2434G>C
ENST00000286301.7:c.2541G>C	ENSP00000286301.3:p.Glu847Asp
ENST00000504875.5:c.*362G>C	ENSP00000422212.1:n.*362G>C
ENST00000515068.1:c.710G>C	ENSP00000427545.1:n.710G>C