Canonical Allele Identifier: CA447144934

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 1444280
• ClinVar RCV Id: RCV001981778
• dbSNP Id: rs1758114993
• gnomAD v3: 5-150073435-C-A
• gnomAD v4: 5-150073435-C-A
• MyVariant Identifiers: chr5:g.149452998C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073435C>A , CM000667.2:g.150073435C>A	GRCh38
NC_000005.9:g.149452998C>A , CM000667.1:g.149452998C>A	GRCh37
NC_000005.8:g.149433191C>A	NCBI36
NG_012303.1:g.44938G>T
NG_012303.2:g.44938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.948G>T MANE Select	ENSP00000501699.1:p.Gly316=
ENST00000286301.7:c.948G>T	ENSP00000286301.3:p.Gly316=
ENST00000504875.5:c.948G>T	ENSP00000422212.1:p.Gly316=
ENST00000543093.1:c.890-2864G>T	ENSP00000445282.1:n.890-2864G>T
NM_001288705.1:c.948G>T	NP_001275634.1:p.Gly316=
NM_005211.3:c.948G>T	NP_005202.2:p.Gly316=
NR_109969.1:n.1161G>T
NM_001288705.2:c.948G>T	NP_001275634.1:p.Gly316=
NM_001349736.1:c.948G>T	NP_001336665.1:p.Gly316=
NM_001288705.3:c.948G>T MANE Select	NP_001275634.1:p.Gly316=
NM_001375320.1:c.948G>T	NP_001362249.1:p.Gly316=
NM_001375321.1:c.504G>T	NP_001362250.1:p.Gly168=
NR_164679.1:n.1004G>T
NM_001349736.2:c.948G>T	NP_001336665.1:p.Gly316=
NM_005211.4:c.948G>T	NP_005202.2:p.Gly316=
NR_109969.2:n.1075G>T