Canonical Allele Identifier: CA129070479

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 1333351
• ClinVar RCV Id: RCV001808039
• dbSNP Id: rs767475362
• MyVariant Identifiers: chr5:g.149452877T>A (hg19) ; chr5:g.150073314T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073314T>A , CM000667.2:g.150073314T>A	GRCh38
NC_000005.9:g.149452877T>A , CM000667.1:g.149452877T>A	GRCh37
NC_000005.8:g.149433070T>A	NCBI36
NG_012303.1:g.45059A>T
NG_012303.2:g.45059A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1069A>T MANE Select	ENSP00000501699.1:p.Lys357Ter
ENST00000286301.7:c.1069A>T	ENSP00000286301.3:p.Lys357Ter
ENST00000504875.5:c.1069A>T	ENSP00000422212.1:p.Lys357Ter
ENST00000543093.1:c.890-2743A>T	ENSP00000445282.1:n.890-2743A>T
NM_001288705.1:c.1069A>T	NP_001275634.1:p.Lys357Ter
NM_005211.3:c.1069A>T	NP_005202.2:p.Lys357Ter
NR_109969.1:n.1282A>T
NM_001288705.2:c.1069A>T	NP_001275634.1:p.Lys357Ter
NM_001349736.1:c.1069A>T	NP_001336665.1:p.Lys357Ter
NM_001288705.3:c.1069A>T MANE Select	NP_001275634.1:p.Lys357Ter
NM_001375320.1:c.1069A>T	NP_001362249.1:p.Lys357Ter
NM_001375321.1:c.625A>T	NP_001362250.1:p.Lys209Ter
NR_164679.1:n.1125A>T
NM_001349736.2:c.1069A>T	NP_001336665.1:p.Lys357Ter
NM_005211.4:c.1069A>T	NP_005202.2:p.Lys357Ter
NR_109969.2:n.1196A>T