Canonical Allele Identifier: CA346086

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150055262G>A , CM000667.2:g.150055262G>A	GRCh38
NC_000005.9:g.149434825G>A , CM000667.1:g.149434825G>A	GRCh37
NC_000005.8:g.149415018G>A	NCBI36
NG_012303.1:g.63111C>T
NG_012303.2:g.63111C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001288705.3:c.2629C>T MANE Select	NP_001275634.1:p.Gln877Ter
ENST00000675795.1:c.2629C>T MANE Select	ENSP00000501699.1:p.Gln877Ter
NM_001288705.1:c.2629C>T	NP_001275634.1:p.Gln877Ter
NM_001288705.2:c.2629C>T	NP_001275634.1:p.Gln877Ter
NM_001349736.1:c.2629C>T	NP_001336665.1:p.Gln877Ter
NM_001349736.2:c.2629C>T	NP_001336665.1:p.Gln877Ter
NM_001375320.1:c.2629C>T	NP_001362249.1:p.Gln877Ter
NM_001375321.1:c.2185C>T	NP_001362250.1:p.Gln729Ter
NM_005211.3:c.2629C>T	NP_005202.2:p.Gln877Ter
NM_005211.4:c.2629C>T	NP_005202.2:p.Gln877Ter
NR_109969.1:n.2679C>T
NR_109969.2:n.2593C>T
NR_164679.1:n.2522C>T
ENST00000286301.7:c.2629C>T	ENSP00000286301.3:p.Gln877Ter
ENST00000504875.5:c.*450C>T	ENSP00000422212.1:n.*450C>T