Canonical Allele Identifier: CA361725011

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 2133223
• ClinVar RCV Id: RCV003056234
• COSMIC: COSM4513528 ; COSM4513529
• MyVariant Identifiers: chr5:g.149453005G>A (hg19) ; chr5:g.150073442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073442G>A , CM000667.2:g.150073442G>A	GRCh38
NC_000005.9:g.149453005G>A , CM000667.1:g.149453005G>A	GRCh37
NC_000005.8:g.149433198G>A	NCBI36
NG_012303.1:g.44931C>T
NG_012303.2:g.44931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.941C>T MANE Select	ENSP00000501699.1:p.Thr314Ile
ENST00000286301.7:c.941C>T	ENSP00000286301.3:p.Thr314Ile
ENST00000504875.5:c.941C>T	ENSP00000422212.1:p.Thr314Ile
ENST00000543093.1:c.890-2871C>T	ENSP00000445282.1:n.890-2871C>T
NM_001288705.1:c.941C>T	NP_001275634.1:p.Thr314Ile
NM_005211.3:c.941C>T	NP_005202.2:p.Thr314Ile
NR_109969.1:n.1154C>T
NM_001288705.2:c.941C>T	NP_001275634.1:p.Thr314Ile
NM_001349736.1:c.941C>T	NP_001336665.1:p.Thr314Ile
NM_001288705.3:c.941C>T MANE Select	NP_001275634.1:p.Thr314Ile
NM_001375320.1:c.941C>T	NP_001362249.1:p.Thr314Ile
NM_001375321.1:c.497C>T	NP_001362250.1:p.Thr166Ile
NR_164679.1:n.997C>T
NM_001349736.2:c.941C>T	NP_001336665.1:p.Thr314Ile
NM_005211.4:c.941C>T	NP_005202.2:p.Thr314Ile
NR_109969.2:n.1068C>T