Canonical Allele Identifier: CA361760037

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150057321-A-G
• MyVariant Identifiers: chr5:g.149436884A>G (hg19) ; chr5:g.150057321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057321A>G , CM000667.2:g.150057321A>G	GRCh38
NC_000005.9:g.149436884A>G , CM000667.1:g.149436884A>G	GRCh37
NC_000005.8:g.149417077A>G	NCBI36
NG_012303.1:g.61052T>C
NG_012303.2:g.61052T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2285T>C MANE Select	ENSP00000501699.1:p.Val762Ala
ENST00000286301.7:c.2285T>C	ENSP00000286301.3:p.Val762Ala
ENST00000504875.5:c.*106T>C	ENSP00000422212.1:n.*106T>C
ENST00000515068.1:c.454T>C	ENSP00000427545.1:n.454T>C
NM_001288705.1:c.2285T>C	NP_001275634.1:p.Val762Ala
NM_005211.3:c.2285T>C	NP_005202.2:p.Val762Ala
NR_109969.1:n.2335T>C
NM_001288705.2:c.2285T>C	NP_001275634.1:p.Val762Ala
NM_001349736.1:c.2285T>C	NP_001336665.1:p.Val762Ala
NM_001288705.3:c.2285T>C MANE Select	NP_001275634.1:p.Val762Ala
NM_001375320.1:c.2285T>C	NP_001362249.1:p.Val762Ala
NM_001375321.1:c.1841T>C	NP_001362250.1:p.Val614Ala
NR_164679.1:n.2178T>C
NM_001349736.2:c.2285T>C	NP_001336665.1:p.Val762Ala
NM_005211.4:c.2285T>C	NP_005202.2:p.Val762Ala
NR_109969.2:n.2249T>C