Canonical Allele Identifier: CA345026

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150056097A>G , CM000667.2:g.150056097A>G	GRCh38
NC_000005.9:g.149435660A>G , CM000667.1:g.149435660A>G	GRCh37
NC_000005.8:g.149415853A>G	NCBI36
NG_012303.1:g.62276T>C
NG_012303.2:g.62276T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001288705.3:c.2483T>C MANE Select	NP_001275634.1:p.Phe828Ser
ENST00000675795.1:c.2483T>C MANE Select	ENSP00000501699.1:p.Phe828Ser
NM_001288705.1:c.2483T>C	NP_001275634.1:p.Phe828Ser
NM_001288705.2:c.2483T>C	NP_001275634.1:p.Phe828Ser
NM_001349736.1:c.2483T>C	NP_001336665.1:p.Phe828Ser
NM_001349736.2:c.2483T>C	NP_001336665.1:p.Phe828Ser
NM_001375320.1:c.2483T>C	NP_001362249.1:p.Phe828Ser
NM_001375321.1:c.2039T>C	NP_001362250.1:p.Phe680Ser
NM_005211.3:c.2483T>C	NP_005202.2:p.Phe828Ser
NM_005211.4:c.2483T>C	NP_005202.2:p.Phe828Ser
NR_109969.1:n.2533T>C
NR_109969.2:n.2447T>C
NR_164679.1:n.2376T>C
ENST00000286301.7:c.2483T>C	ENSP00000286301.3:p.Phe828Ser
ENST00000504875.5:c.*304T>C	ENSP00000422212.1:n.*304T>C
ENST00000515068.1:c.652T>C	ENSP00000427545.1:n.652T>C