Canonical Allele Identifier: CA361724438

Gene: CSF1R

Linked Data

• dbSNP Id: rs2113814981
• COSMIC: COSM1696555 ; COSM1696556
• MyVariant Identifiers: chr5:g.149452874C>T (hg19) ; chr5:g.150073311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073311C>T , CM000667.2:g.150073311C>T	GRCh38
NC_000005.9:g.149452874C>T , CM000667.1:g.149452874C>T	GRCh37
NC_000005.8:g.149433067C>T	NCBI36
NG_012303.1:g.45062G>A
NG_012303.2:g.45062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1072G>A MANE Select	ENSP00000501699.1:p.Asp358Asn
ENST00000286301.7:c.1072G>A	ENSP00000286301.3:p.Asp358Asn
ENST00000504875.5:c.1072G>A	ENSP00000422212.1:p.Asp358Asn
ENST00000543093.1:c.890-2740G>A	ENSP00000445282.1:n.890-2740G>A
NM_001288705.1:c.1072G>A	NP_001275634.1:p.Asp358Asn
NM_005211.3:c.1072G>A	NP_005202.2:p.Asp358Asn
NR_109969.1:n.1285G>A
NM_001288705.2:c.1072G>A	NP_001275634.1:p.Asp358Asn
NM_001349736.1:c.1072G>A	NP_001336665.1:p.Asp358Asn
NM_001288705.3:c.1072G>A MANE Select	NP_001275634.1:p.Asp358Asn
NM_001375320.1:c.1072G>A	NP_001362249.1:p.Asp358Asn
NM_001375321.1:c.628G>A	NP_001362250.1:p.Asp210Asn
NR_164679.1:n.1128G>A
NM_001349736.2:c.1072G>A	NP_001336665.1:p.Asp358Asn
NM_005211.4:c.1072G>A	NP_005202.2:p.Asp358Asn
NR_109969.2:n.1199G>A