Canonical Allele Identifier: CA3506991

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 3005076
• ClinVar RCV Id: RCV003868203
• dbSNP Id: rs781314536
• ExAC: 5:149453050 G / A
• gnomAD v2: 5-149453050-G-A
• gnomAD v4: 5-150073487-G-A
• MyVariant Identifiers: chr5:g.149453050G>A (hg19) ; chr5:g.150073487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073487G>A , CM000667.2:g.150073487G>A	GRCh38
NC_000005.9:g.149453050G>A , CM000667.1:g.149453050G>A	GRCh37
NC_000005.8:g.149433243G>A	NCBI36
NG_012303.1:g.44886C>T
NG_012303.2:g.44886C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000675795.1:c.896C>T MANE Select	ENSP00000501699.1:p.Ala299Val
ENST00000286301.7:c.896C>T	ENSP00000286301.3:p.Ala299Val
ENST00000504875.5:c.896C>T	ENSP00000422212.1:p.Ala299Val
ENST00000543093.1:c.890-2916C>T	ENSP00000445282.1:n.890-2916C>T
NM_001288705.1:c.896C>T	NP_001275634.1:p.Ala299Val
NM_005211.3:c.896C>T	NP_005202.2:p.Ala299Val
NR_109969.1:n.1109C>T
NM_001288705.2:c.896C>T	NP_001275634.1:p.Ala299Val
NM_001349736.1:c.896C>T	NP_001336665.1:p.Ala299Val
NM_001288705.3:c.896C>T MANE Select	NP_001275634.1:p.Ala299Val
NM_001375320.1:c.896C>T	NP_001362249.1:p.Ala299Val
NM_001375321.1:c.452C>T	NP_001362250.1:p.Ala151Val
NR_164679.1:n.952C>T
NM_001349736.2:c.896C>T	NP_001336665.1:p.Ala299Val
NM_005211.4:c.896C>T	NP_005202.2:p.Ala299Val
NR_109969.2:n.1023C>T