Canonical Allele Identifier: CA2675956712

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150070428-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150070428C>G , CM000667.2:g.150070428C>G	GRCh38
NC_000005.9:g.149449991C>G , CM000667.1:g.149449991C>G	GRCh37
NC_000005.8:g.149430184C>G	NCBI36
NG_012303.1:g.47945G>C
NG_012303.2:g.47945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1198+28G>C MANE Select	ENSP00000501699.1:n.1198+28G>C
ENST00000286301.7:c.1198+28G>C	ENSP00000286301.3:n.1198+28G>C
ENST00000504875.5:c.1198+28G>C	ENSP00000422212.1:n.1198+28G>C
NM_001288705.1:c.1198+28G>C	NP_001275634.1:n.1198+28G>C
NM_005211.3:c.1198+28G>C	NP_005202.2:n.1198+28G>C
NR_109969.1:n.1411+28G>C
NM_001288705.2:c.1198+28G>C	NP_001275634.1:n.1198+28G>C
NM_001349736.1:c.1198+28G>C	NP_001336665.1:n.1198+28G>C
NM_001288705.3:c.1198+28G>C MANE Select	NP_001275634.1:n.1198+28G>C
NM_001375320.1:c.1198+28G>C	NP_001362249.1:n.1198+28G>C
NM_001375321.1:c.754+28G>C	NP_001362250.1:n.754+28G>C
NR_164679.1:n.1254+28G>C
NM_001349736.2:c.1198+28G>C	NP_001336665.1:n.1198+28G>C
NM_005211.4:c.1198+28G>C	NP_005202.2:n.1198+28G>C
NR_109969.2:n.1325+28G>C