Canonical Allele Identifier: CA342704

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150055267A>G , CM000667.2:g.150055267A>G	GRCh38
NC_000005.9:g.149434830A>G , CM000667.1:g.149434830A>G	GRCh37
NC_000005.8:g.149415023A>G	NCBI36
NG_012303.1:g.63106T>C
NG_012303.2:g.63106T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001288705.3:c.2624T>C MANE Select	NP_001275634.1:p.Met875Thr
ENST00000675795.1:c.2624T>C MANE Select	ENSP00000501699.1:p.Met875Thr
NM_001288705.1:c.2624T>C	NP_001275634.1:p.Met875Thr
NM_001288705.2:c.2624T>C	NP_001275634.1:p.Met875Thr
NM_001349736.1:c.2624T>C	NP_001336665.1:p.Met875Thr
NM_001349736.2:c.2624T>C	NP_001336665.1:p.Met875Thr
NM_001375320.1:c.2624T>C	NP_001362249.1:p.Met875Thr
NM_001375321.1:c.2180T>C	NP_001362250.1:p.Met727Thr
NM_005211.3:c.2624T>C	NP_005202.2:p.Met875Thr
NM_005211.4:c.2624T>C	NP_005202.2:p.Met875Thr
NR_109969.1:n.2674T>C
NR_109969.2:n.2588T>C
NR_164679.1:n.2517T>C
ENST00000286301.7:c.2624T>C	ENSP00000286301.3:p.Met875Thr
ENST00000504875.5:c.*445T>C	ENSP00000422212.1:n.*445T>C