Canonical Allele Identifier: CA129103893

Gene: CSF1R

Linked Data

• dbSNP Id: rs41287096
• gnomAD v2: 5-149436790-T-C
• gnomAD v3: 5-150057227-T-C
• gnomAD v4: 5-150057227-T-C
• MyVariant Identifiers: chr5:g.149436790T>C (hg19) ; chr5:g.150057227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057227T>C , CM000667.2:g.150057227T>C	GRCh38
NC_000005.9:g.149436790T>C , CM000667.1:g.149436790T>C	GRCh37
NC_000005.8:g.149416983T>C	NCBI36
NG_012303.1:g.61146A>G
NG_012303.2:g.61146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2319+60A>G MANE Select	ENSP00000501699.1:n.2319+60A>G
ENST00000286301.7:c.2319+60A>G	ENSP00000286301.3:n.2319+60A>G
ENST00000504875.5:c.*140+60A>G	ENSP00000422212.1:n.*140+60A>G
ENST00000515068.1:c.488+60A>G	ENSP00000427545.1:n.488+60A>G
NM_001288705.1:c.2319+60A>G	NP_001275634.1:n.2319+60A>G
NM_005211.3:c.2319+60A>G	NP_005202.2:n.2319+60A>G
NR_109969.1:n.2369+60A>G
NM_001288705.2:c.2319+60A>G	NP_001275634.1:n.2319+60A>G
NM_001349736.1:c.2319+60A>G	NP_001336665.1:n.2319+60A>G
NM_001288705.3:c.2319+60A>G MANE Select	NP_001275634.1:n.2319+60A>G
NM_001375320.1:c.2319+60A>G	NP_001362249.1:n.2319+60A>G
NM_001375321.1:c.1875+60A>G	NP_001362250.1:n.1875+60A>G
NR_164679.1:n.2212+60A>G
NM_001349736.2:c.2319+60A>G	NP_001336665.1:n.2319+60A>G
NM_005211.4:c.2319+60A>G	NP_005202.2:n.2319+60A>G
NR_109969.2:n.2283+60A>G