Canonical Allele Identifier: CA342708
Community Standard Title: NM_001288705.3(CSF1R):c.1754-2A>G
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150061597T>C , CM000667.2:g.150061597T>C GRCh38
NC_000005.9:g.149441160T>C , CM000667.1:g.149441160T>C GRCh37
NC_000005.8:g.149421353T>C NCBI36
NG_012303.1:g.56776A>G
NG_012303.2:g.56776A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.1754-2A>G MANE Select NP_001275634.1:n.1754-2A>G
ENST00000675795.1:c.1754-2A>G MANE Select ENSP00000501699.1:n.1754-2A>G
NM_001288705.1:c.1754-2A>G NP_001275634.1:n.1754-2A>G
NM_001288705.2:c.1754-2A>G NP_001275634.1:n.1754-2A>G
NM_001349736.1:c.1754-2A>G NP_001336665.1:n.1754-2A>G
NM_001349736.2:c.1754-2A>G NP_001336665.1:n.1754-2A>G
NM_001375320.1:c.1754-2A>G NP_001362249.1:n.1754-2A>G
NM_001375321.1:c.1310-2A>G NP_001362250.1:n.1310-2A>G
NM_005211.3:c.1754-2A>G NP_005202.2:n.1754-2A>G
NM_005211.4:c.1754-2A>G NP_005202.2:n.1754-2A>G
NR_109969.1:n.1967-2A>G
NR_109969.2:n.1881-2A>G
NR_164679.1:n.1810-2A>G
ENST00000286301.7:c.1754-2A>G ENSP00000286301.3:n.1754-2A>G
ENST00000504875.5:c.1754-2A>G ENSP00000422212.1:n.1754-2A>G
ENST00000513609.1:n.409A>G
ENST00000515068.1:c.72A>G ENSP00000427545.1:p.Ala24=
ENST00000515239.5:n.284-2A>G