Canonical Allele Identifier: CA3507103
Community Standard Title: NM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150078121G>C , CM000667.2:g.150078121G>C GRCh38
NC_000005.9:g.149457684G>C , CM000667.1:g.149457684G>C GRCh37
NC_000005.8:g.149437877G>C NCBI36
NG_012303.1:g.40252C>G
NG_012303.2:g.40252C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.720C>G MANE Select NP_001275634.1:p.Asn240Lys
ENST00000675795.1:c.720C>G MANE Select ENSP00000501699.1:p.Asn240Lys
NM_001288705.1:c.720C>G NP_001275634.1:p.Asn240Lys
NM_001288705.2:c.720C>G NP_001275634.1:p.Asn240Lys
NM_001349736.1:c.720C>G NP_001336665.1:p.Asn240Lys
NM_001349736.2:c.720C>G NP_001336665.1:p.Asn240Lys
NM_001375320.1:c.720C>G NP_001362249.1:p.Asn240Lys
NM_001375321.1:c.276C>G NP_001362250.1:p.Asn92Lys
NM_005211.3:c.720C>G NP_005202.2:p.Asn240Lys
NM_005211.4:c.720C>G NP_005202.2:p.Asn240Lys
NR_109969.1:n.933C>G
NR_109969.2:n.847C>G
NR_164679.1:n.776C>G
ENST00000286301.7:c.720C>G ENSP00000286301.3:p.Asn240Lys
ENST00000502660.5:n.847C>G
ENST00000504875.5:c.720C>G ENSP00000422212.1:p.Asn240Lys
ENST00000543093.1:c.720C>G ENSP00000445282.1:p.Asn240Lys