Canonical Allele Identifier: CA361760308

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150057373-C-T
• MyVariant Identifiers: chr5:g.149436936C>T (hg19) ; chr5:g.150057373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057373C>T , CM000667.2:g.150057373C>T	GRCh38
NC_000005.9:g.149436936C>T , CM000667.1:g.149436936C>T	GRCh37
NC_000005.8:g.149417129C>T	NCBI36
NG_012303.1:g.61000G>A
NG_012303.2:g.61000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2233G>A MANE Select	ENSP00000501699.1:p.Glu745Lys
ENST00000286301.7:c.2233G>A	ENSP00000286301.3:p.Glu745Lys
ENST00000504875.5:c.*54G>A	ENSP00000422212.1:n.*54G>A
ENST00000515068.1:c.402G>A	ENSP00000427545.1:n.402G>A
NM_001288705.1:c.2233G>A	NP_001275634.1:p.Glu745Lys
NM_005211.3:c.2233G>A	NP_005202.2:p.Glu745Lys
NR_109969.1:n.2283G>A
NM_001288705.2:c.2233G>A	NP_001275634.1:p.Glu745Lys
NM_001349736.1:c.2233G>A	NP_001336665.1:p.Glu745Lys
NM_001288705.3:c.2233G>A MANE Select	NP_001275634.1:p.Glu745Lys
NM_001375320.1:c.2233G>A	NP_001362249.1:p.Glu745Lys
NM_001375321.1:c.1789G>A	NP_001362250.1:p.Glu597Lys
NR_164679.1:n.2126G>A
NM_001349736.2:c.2233G>A	NP_001336665.1:p.Glu745Lys
NM_005211.4:c.2233G>A	NP_005202.2:p.Glu745Lys
NR_109969.2:n.2197G>A