Canonical Allele Identifier: CA361725127

Gene: CSF1R

Linked Data

• dbSNP Id: rs1758116666
• gnomAD v3: 5-150073452-G-C
• gnomAD v4: 5-150073452-G-C
• MyVariant Identifiers: chr5:g.149453015G>C (hg19) ; chr5:g.150073452G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073452G>C , CM000667.2:g.150073452G>C	GRCh38
NC_000005.9:g.149453015G>C , CM000667.1:g.149453015G>C	GRCh37
NC_000005.8:g.149433208G>C	NCBI36
NG_012303.1:g.44921C>G
NG_012303.2:g.44921C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.931C>G MANE Select	ENSP00000501699.1:p.Gln311Glu
ENST00000286301.7:c.931C>G	ENSP00000286301.3:p.Gln311Glu
ENST00000504875.5:c.931C>G	ENSP00000422212.1:p.Gln311Glu
ENST00000543093.1:c.890-2881C>G	ENSP00000445282.1:n.890-2881C>G
NM_001288705.1:c.931C>G	NP_001275634.1:p.Gln311Glu
NM_005211.3:c.931C>G	NP_005202.2:p.Gln311Glu
NR_109969.1:n.1144C>G
NM_001288705.2:c.931C>G	NP_001275634.1:p.Gln311Glu
NM_001349736.1:c.931C>G	NP_001336665.1:p.Gln311Glu
NM_001288705.3:c.931C>G MANE Select	NP_001275634.1:p.Gln311Glu
NM_001375320.1:c.931C>G	NP_001362249.1:p.Gln311Glu
NM_001375321.1:c.487C>G	NP_001362250.1:p.Gln163Glu
NR_164679.1:n.987C>G
NM_001349736.2:c.931C>G	NP_001336665.1:p.Gln311Glu
NM_005211.4:c.931C>G	NP_005202.2:p.Gln311Glu
NR_109969.2:n.1058C>G