Canonical Allele Identifier: CA3506276

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 352121
• ClinVar RCV Id: RCV000360123 ; RCV001636977 ; RCV001662317
• dbSNP Id: rs2066933
• ExAC: 5:149433597 G / A
• gnomAD v2: 5-149433597-G-A
• gnomAD v3: 5-150054034-G-A
• gnomAD v4: 5-150054034-G-A
• MyVariant Identifiers: chr5:g.149433597G>A (hg19) ; chr5:g.150054034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150054034G>A , CM000667.2:g.150054034G>A	GRCh38
NC_000005.9:g.149433597G>A , CM000667.1:g.149433597G>A	GRCh37
NC_000005.8:g.149413790G>A	NCBI36
NG_012303.1:g.64339C>T
NG_021389.1:g.58429G>A
NG_012303.2:g.64339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.*35C>T MANE Select	ENSP00000501699.1:n.*35C>T
ENST00000286301.7:c.*35C>T	ENSP00000286301.3:n.*35C>T
ENST00000504875.5:c.*775C>T	ENSP00000422212.1:n.*775C>T
ENST00000509861.1:n.690C>T
NM_001288705.1:c.*35C>T	NP_001275634.1:n.*35C>T
NM_005211.3:c.*35C>T	NP_005202.2:n.*35C>T
NR_109969.1:n.3004C>T
NM_001288705.2:c.*35C>T	NP_001275634.1:n.*35C>T
NM_001349736.1:c.*35C>T	NP_001336665.1:n.*35C>T
NM_001288705.3:c.*35C>T MANE Select	NP_001275634.1:n.*35C>T
NM_001375320.1:c.*35C>T	NP_001362249.1:n.*35C>T
NM_001375321.1:c.*35C>T	NP_001362250.1:n.*35C>T
NR_164679.1:n.2847C>T
NM_001349736.2:c.*35C>T	NP_001336665.1:n.*35C>T
NM_005211.4:c.*35C>T	NP_005202.2:n.*35C>T
NR_109969.2:n.2918C>T