Canonical Allele Identifier: CA343014

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150056316C>T , CM000667.2:g.150056316C>T	GRCh38
NC_000005.9:g.149435879C>T , CM000667.1:g.149435879C>T	GRCh37
NC_000005.8:g.149416072C>T	NCBI36
NG_012303.1:g.62057G>A
NG_012303.2:g.62057G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001288705.3:c.2345G>A MANE Select	NP_001275634.1:p.Arg782His
ENST00000675795.1:c.2345G>A MANE Select	ENSP00000501699.1:p.Arg782His
NM_001288705.1:c.2345G>A	NP_001275634.1:p.Arg782His
NM_001288705.2:c.2345G>A	NP_001275634.1:p.Arg782His
NM_001349736.1:c.2345G>A	NP_001336665.1:p.Arg782His
NM_001349736.2:c.2345G>A	NP_001336665.1:p.Arg782His
NM_001375320.1:c.2345G>A	NP_001362249.1:p.Arg782His
NM_001375321.1:c.1901G>A	NP_001362250.1:p.Arg634His
NM_005211.3:c.2345G>A	NP_005202.2:p.Arg782His
NM_005211.4:c.2345G>A	NP_005202.2:p.Arg782His
NR_109969.1:n.2395G>A
NR_109969.2:n.2309G>A
NR_164679.1:n.2238G>A
ENST00000286301.7:c.2345G>A	ENSP00000286301.3:p.Arg782His
ENST00000504875.5:c.*166G>A	ENSP00000422212.1:n.*166G>A
ENST00000515068.1:c.514G>A	ENSP00000427545.1:n.514G>A