Canonical Allele Identifier: CA361724501

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 2795626
• ClinVar RCV Id: RCV003675546
• gnomAD v4: 5-150073343-G-A
• MyVariant Identifiers: chr5:g.149452906G>A (hg19) ; chr5:g.150073343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073343G>A , CM000667.2:g.150073343G>A	GRCh38
NC_000005.9:g.149452906G>A , CM000667.1:g.149452906G>A	GRCh37
NC_000005.8:g.149433099G>A	NCBI36
NG_012303.1:g.45030C>T
NG_012303.2:g.45030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1040C>T MANE Select	ENSP00000501699.1:p.Pro347Leu
ENST00000286301.7:c.1040C>T	ENSP00000286301.3:p.Pro347Leu
ENST00000504875.5:c.1040C>T	ENSP00000422212.1:p.Pro347Leu
ENST00000543093.1:c.890-2772C>T	ENSP00000445282.1:n.890-2772C>T
NM_001288705.1:c.1040C>T	NP_001275634.1:p.Pro347Leu
NM_005211.3:c.1040C>T	NP_005202.2:p.Pro347Leu
NR_109969.1:n.1253C>T
NM_001288705.2:c.1040C>T	NP_001275634.1:p.Pro347Leu
NM_001349736.1:c.1040C>T	NP_001336665.1:p.Pro347Leu
NM_001288705.3:c.1040C>T MANE Select	NP_001275634.1:p.Pro347Leu
NM_001375320.1:c.1040C>T	NP_001362249.1:p.Pro347Leu
NM_001375321.1:c.596C>T	NP_001362250.1:p.Pro199Leu
NR_164679.1:n.1096C>T
NM_001349736.2:c.1040C>T	NP_001336665.1:p.Pro347Leu
NM_005211.4:c.1040C>T	NP_005202.2:p.Pro347Leu
NR_109969.2:n.1167C>T