Canonical Allele Identifier: CA346069

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150056331C>T , CM000667.2:g.150056331C>T	GRCh38
NC_000005.9:g.149435894C>T , CM000667.1:g.149435894C>T	GRCh37
NC_000005.8:g.149416087C>T	NCBI36
NG_012303.1:g.62042G>A
NG_012303.2:g.62042G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001288705.3:c.2330G>A MANE Select	NP_001275634.1:p.Arg777Gln
ENST00000675795.1:c.2330G>A MANE Select	ENSP00000501699.1:p.Arg777Gln
NM_001288705.1:c.2330G>A	NP_001275634.1:p.Arg777Gln
NM_001288705.2:c.2330G>A	NP_001275634.1:p.Arg777Gln
NM_001349736.1:c.2330G>A	NP_001336665.1:p.Arg777Gln
NM_001349736.2:c.2330G>A	NP_001336665.1:p.Arg777Gln
NM_001375320.1:c.2330G>A	NP_001362249.1:p.Arg777Gln
NM_001375321.1:c.1886G>A	NP_001362250.1:p.Arg629Gln
NM_005211.3:c.2330G>A	NP_005202.2:p.Arg777Gln
NM_005211.4:c.2330G>A	NP_005202.2:p.Arg777Gln
NR_109969.1:n.2380G>A
NR_109969.2:n.2294G>A
NR_164679.1:n.2223G>A
ENST00000286301.7:c.2330G>A	ENSP00000286301.3:p.Arg777Gln
ENST00000504875.5:c.*151G>A	ENSP00000422212.1:n.*151G>A
ENST00000515068.1:c.499G>A	ENSP00000427545.1:n.499G>A