Canonical Allele Identifier: CA447145011

Gene: CSF1R

Linked Data

• dbSNP Id: rs1307261193
• gnomAD v2: 5-149453045-A-G
• gnomAD v4: 5-150073482-A-G
• MyVariant Identifiers: chr5:g.149453045A>G (hg19) ; chr5:g.150073482A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073482A>G , CM000667.2:g.150073482A>G	GRCh38
NC_000005.9:g.149453045A>G , CM000667.1:g.149453045A>G	GRCh37
NC_000005.8:g.149433238A>G	NCBI36
NG_012303.1:g.44891T>C
NG_012303.2:g.44891T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675795.1:c.901T>C MANE Select	ENSP00000501699.1:p.Leu301=
ENST00000286301.7:c.901T>C	ENSP00000286301.3:p.Leu301=
ENST00000504875.5:c.901T>C	ENSP00000422212.1:p.Leu301=
ENST00000543093.1:c.890-2911T>C	ENSP00000445282.1:n.890-2911T>C
NM_001288705.1:c.901T>C	NP_001275634.1:p.Leu301=
NM_005211.3:c.901T>C	NP_005202.2:p.Leu301=
NR_109969.1:n.1114T>C
NM_001288705.2:c.901T>C	NP_001275634.1:p.Leu301=
NM_001349736.1:c.901T>C	NP_001336665.1:p.Leu301=
NM_001288705.3:c.901T>C MANE Select	NP_001275634.1:p.Leu301=
NM_001375320.1:c.901T>C	NP_001362249.1:p.Leu301=
NM_001375321.1:c.457T>C	NP_001362250.1:p.Leu153=
NR_164679.1:n.957T>C
NM_001349736.2:c.901T>C	NP_001336665.1:p.Leu301=
NM_005211.4:c.901T>C	NP_005202.2:p.Leu301=
NR_109969.2:n.1028T>C