Canonical Allele Identifier: CA447405319
Gene: CSF1R HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149450041C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150070478C>G , CM000667.2:g.150070478C>G GRCh38
NC_000005.9:g.149450041C>G , CM000667.1:g.149450041C>G GRCh37
NC_000005.8:g.149430234C>G NCBI36
NG_012303.1:g.47895G>C
NG_012303.2:g.47895G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000675795.1:c.1176G>C MANE Select ENSP00000501699.1:p.Leu392=
ENST00000286301.7:c.1176G>C ENSP00000286301.3:p.Leu392=
ENST00000504875.5:c.1176G>C ENSP00000422212.1:p.Leu392=
NM_001288705.1:c.1176G>C NP_001275634.1:p.Leu392=
NM_005211.3:c.1176G>C NP_005202.2:p.Leu392=
NR_109969.1:n.1389G>C
NM_001288705.2:c.1176G>C NP_001275634.1:p.Leu392=
NM_001349736.1:c.1176G>C NP_001336665.1:p.Leu392=
NM_001288705.3:c.1176G>C MANE Select NP_001275634.1:p.Leu392=
NM_001375320.1:c.1176G>C NP_001362249.1:p.Leu392=
NM_001375321.1:c.732G>C NP_001362250.1:p.Leu244=
NR_164679.1:n.1232G>C
NM_001349736.2:c.1176G>C NP_001336665.1:p.Leu392=
NM_005211.4:c.1176G>C NP_005202.2:p.Leu392=
NR_109969.2:n.1303G>C