Canonical Allele Identifier: CA361724594

Gene: CSF1R

Linked Data

• MyVariant Identifiers: chr5:g.149452945A>C (hg19) ; chr5:g.150073382A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073382A>C , CM000667.2:g.150073382A>C	GRCh38
NC_000005.9:g.149452945A>C , CM000667.1:g.149452945A>C	GRCh37
NC_000005.8:g.149433138A>C	NCBI36
NG_012303.1:g.44991T>G
NG_012303.2:g.44991T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675795.1:c.1001T>G MANE Select	ENSP00000501699.1:p.Phe334Cys
ENST00000286301.7:c.1001T>G	ENSP00000286301.3:p.Phe334Cys
ENST00000504875.5:c.1001T>G	ENSP00000422212.1:p.Phe334Cys
ENST00000543093.1:c.890-2811T>G	ENSP00000445282.1:n.890-2811T>G
NM_001288705.1:c.1001T>G	NP_001275634.1:p.Phe334Cys
NM_005211.3:c.1001T>G	NP_005202.2:p.Phe334Cys
NR_109969.1:n.1214T>G
NM_001288705.2:c.1001T>G	NP_001275634.1:p.Phe334Cys
NM_001349736.1:c.1001T>G	NP_001336665.1:p.Phe334Cys
NM_001288705.3:c.1001T>G MANE Select	NP_001275634.1:p.Phe334Cys
NM_001375320.1:c.1001T>G	NP_001362249.1:p.Phe334Cys
NM_001375321.1:c.557T>G	NP_001362250.1:p.Phe186Cys
NR_164679.1:n.1057T>G
NM_001349736.2:c.1001T>G	NP_001336665.1:p.Phe334Cys
NM_005211.4:c.1001T>G	NP_005202.2:p.Phe334Cys
NR_109969.2:n.1128T>G