Canonical Allele Identifier: CA2843255048

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150070408G>A , CM000667.2:g.150070408G>A	GRCh38
NC_000005.9:g.149449971G>A , CM000667.1:g.149449971G>A	GRCh37
NC_000005.8:g.149430164G>A	NCBI36
NG_012303.1:g.47965C>T
NG_012303.2:g.47965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1198+48C>T MANE Select	ENSP00000501699.1:n.1198+48C>T
ENST00000286301.7:c.1198+48C>T	ENSP00000286301.3:n.1198+48C>T
ENST00000504875.5:c.1198+48C>T	ENSP00000422212.1:n.1198+48C>T
NM_001288705.1:c.1198+48C>T	NP_001275634.1:n.1198+48C>T
NM_005211.3:c.1198+48C>T	NP_005202.2:n.1198+48C>T
NR_109969.1:n.1411+48C>T
NM_001288705.2:c.1198+48C>T	NP_001275634.1:n.1198+48C>T
NM_001349736.1:c.1198+48C>T	NP_001336665.1:n.1198+48C>T
NM_001288705.3:c.1198+48C>T MANE Select	NP_001275634.1:n.1198+48C>T
NM_001375320.1:c.1198+48C>T	NP_001362249.1:n.1198+48C>T
NM_001375321.1:c.754+48C>T	NP_001362250.1:n.754+48C>T
NR_164679.1:n.1254+48C>T
NM_001349736.2:c.1198+48C>T	NP_001336665.1:n.1198+48C>T
NM_005211.4:c.1198+48C>T	NP_005202.2:n.1198+48C>T
NR_109969.2:n.1325+48C>T