Canonical Allele Identifier: CA361725278

Gene: CSF1R

Linked Data

• MyVariant Identifiers: chr5:g.149453030C>T (hg19) ; chr5:g.150073467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073467C>T , CM000667.2:g.150073467C>T	GRCh38
NC_000005.9:g.149453030C>T , CM000667.1:g.149453030C>T	GRCh37
NC_000005.8:g.149433223C>T	NCBI36
NG_012303.1:g.44906G>A
NG_012303.2:g.44906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.916G>A MANE Select	ENSP00000501699.1:p.Glu306Lys
ENST00000286301.7:c.916G>A	ENSP00000286301.3:p.Glu306Lys
ENST00000504875.5:c.916G>A	ENSP00000422212.1:p.Glu306Lys
ENST00000543093.1:c.890-2896G>A	ENSP00000445282.1:n.890-2896G>A
NM_001288705.1:c.916G>A	NP_001275634.1:p.Glu306Lys
NM_005211.3:c.916G>A	NP_005202.2:p.Glu306Lys
NR_109969.1:n.1129G>A
NM_001288705.2:c.916G>A	NP_001275634.1:p.Glu306Lys
NM_001349736.1:c.916G>A	NP_001336665.1:p.Glu306Lys
NM_001288705.3:c.916G>A MANE Select	NP_001275634.1:p.Glu306Lys
NM_001375320.1:c.916G>A	NP_001362249.1:p.Glu306Lys
NM_001375321.1:c.472G>A	NP_001362250.1:p.Glu158Lys
NR_164679.1:n.972G>A
NM_001349736.2:c.916G>A	NP_001336665.1:p.Glu306Lys
NM_005211.4:c.916G>A	NP_005202.2:p.Glu306Lys
NR_109969.2:n.1043G>A