Canonical Allele Identifier: CA16603115
Gene: CSF1R HGNC NCBI

Linked Data

ClinVar Variation Id: 376703
ClinVar RCV Id: RCV000432996
dbSNP Id: rs1057520014

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150073480C>A , CM000667.2:g.150073480C>A GRCh38
NC_000005.9:g.149453043C>A , CM000667.1:g.149453043C>A GRCh37
NC_000005.8:g.149433236C>A NCBI36
NG_012303.1:g.44893G>T
NG_012303.2:g.44893G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000675795.1:c.903G>T MANE Select ENSP00000501699.1:p.Leu301Phe
ENST00000286301.7:c.903G>T ENSP00000286301.3:p.Leu301Phe
ENST00000504875.5:c.903G>T ENSP00000422212.1:p.Leu301Phe
ENST00000543093.1:c.890-2909G>T ENSP00000445282.1:n.890-2909G>T
NM_001288705.1:c.903G>T NP_001275634.1:p.Leu301Phe
NM_005211.3:c.903G>T NP_005202.2:p.Leu301Phe
NR_109969.1:n.1116G>T
NM_001288705.2:c.903G>T NP_001275634.1:p.Leu301Phe
NM_001349736.1:c.903G>T NP_001336665.1:p.Leu301Phe
NM_001288705.3:c.903G>T MANE Select NP_001275634.1:p.Leu301Phe
NM_001375320.1:c.903G>T NP_001362249.1:p.Leu301Phe
NM_001375321.1:c.459G>T NP_001362250.1:p.Leu153Phe
NR_164679.1:n.959G>T
NM_001349736.2:c.903G>T NP_001336665.1:p.Leu301Phe
NM_005211.4:c.903G>T NP_005202.2:p.Leu301Phe
NR_109969.2:n.1030G>T