Canonical Allele Identifier: CA346098

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150056112G>A , CM000667.2:g.150056112G>A	GRCh38
NC_000005.9:g.149435675G>A , CM000667.1:g.149435675G>A	GRCh37
NC_000005.8:g.149415868G>A	NCBI36
NG_012303.1:g.62261C>T
NG_012303.2:g.62261C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001288705.3:c.2468C>T MANE Select	NP_001275634.1:p.Ala823Val
ENST00000675795.1:c.2468C>T MANE Select	ENSP00000501699.1:p.Ala823Val
NM_001288705.1:c.2468C>T	NP_001275634.1:p.Ala823Val
NM_001288705.2:c.2468C>T	NP_001275634.1:p.Ala823Val
NM_001349736.1:c.2468C>T	NP_001336665.1:p.Ala823Val
NM_001349736.2:c.2468C>T	NP_001336665.1:p.Ala823Val
NM_001375320.1:c.2468C>T	NP_001362249.1:p.Ala823Val
NM_001375321.1:c.2024C>T	NP_001362250.1:p.Ala675Val
NM_005211.3:c.2468C>T	NP_005202.2:p.Ala823Val
NM_005211.4:c.2468C>T	NP_005202.2:p.Ala823Val
NR_109969.1:n.2518C>T
NR_109969.2:n.2432C>T
NR_164679.1:n.2361C>T
ENST00000286301.7:c.2468C>T	ENSP00000286301.3:p.Ala823Val
ENST00000504875.5:c.*289C>T	ENSP00000422212.1:n.*289C>T
ENST00000515068.1:c.637C>T	ENSP00000427545.1:n.637C>T