Canonical Allele Identifier: CA361724415

Gene: CSF1R

Linked Data

• dbSNP Id: rs1443294435
• gnomAD v2: 5-149452864-C-T
• gnomAD v4: 5-150073301-C-T
• MyVariant Identifiers: chr5:g.149452864C>T (hg19) ; chr5:g.150073301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073301C>T , CM000667.2:g.150073301C>T	GRCh38
NC_000005.9:g.149452864C>T , CM000667.1:g.149452864C>T	GRCh37
NC_000005.8:g.149433057C>T	NCBI36
NG_012303.1:g.45072G>A
NG_012303.2:g.45072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1082G>A MANE Select	ENSP00000501699.1:p.Arg361Lys
ENST00000286301.7:c.1082G>A	ENSP00000286301.3:p.Arg361Lys
ENST00000504875.5:c.1082G>A	ENSP00000422212.1:p.Arg361Lys
ENST00000543093.1:c.890-2730G>A	ENSP00000445282.1:n.890-2730G>A
NM_001288705.1:c.1082G>A	NP_001275634.1:p.Arg361Lys
NM_005211.3:c.1082G>A	NP_005202.2:p.Arg361Lys
NR_109969.1:n.1295G>A
NM_001288705.2:c.1082G>A	NP_001275634.1:p.Arg361Lys
NM_001349736.1:c.1082G>A	NP_001336665.1:p.Arg361Lys
NM_001288705.3:c.1082G>A MANE Select	NP_001275634.1:p.Arg361Lys
NM_001375320.1:c.1082G>A	NP_001362249.1:p.Arg361Lys
NM_001375321.1:c.638G>A	NP_001362250.1:p.Arg213Lys
NR_164679.1:n.1138G>A
NM_001349736.2:c.1082G>A	NP_001336665.1:p.Arg361Lys
NM_005211.4:c.1082G>A	NP_005202.2:p.Arg361Lys
NR_109969.2:n.1209G>A