Canonical Allele Identifier: CA361721949

Gene: CSF1R

Linked Data

• gnomAD v4: 5-150070483-C-A
• MyVariant Identifiers: chr5:g.149450046C>A (hg19) ; chr5:g.150070483C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150070483C>A , CM000667.2:g.150070483C>A	GRCh38
NC_000005.9:g.149450046C>A , CM000667.1:g.149450046C>A	GRCh37
NC_000005.8:g.149430239C>A	NCBI36
NG_012303.1:g.47890G>T
NG_012303.2:g.47890G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000675795.1:c.1171G>T MANE Select	ENSP00000501699.1:p.Ala391Ser
ENST00000286301.7:c.1171G>T	ENSP00000286301.3:p.Ala391Ser
ENST00000504875.5:c.1171G>T	ENSP00000422212.1:p.Ala391Ser
NM_001288705.1:c.1171G>T	NP_001275634.1:p.Ala391Ser
NM_005211.3:c.1171G>T	NP_005202.2:p.Ala391Ser
NR_109969.1:n.1384G>T
NM_001288705.2:c.1171G>T	NP_001275634.1:p.Ala391Ser
NM_001349736.1:c.1171G>T	NP_001336665.1:p.Ala391Ser
NM_001288705.3:c.1171G>T MANE Select	NP_001275634.1:p.Ala391Ser
NM_001375320.1:c.1171G>T	NP_001362249.1:p.Ala391Ser
NM_001375321.1:c.727G>T	NP_001362250.1:p.Ala243Ser
NR_164679.1:n.1227G>T
NM_001349736.2:c.1171G>T	NP_001336665.1:p.Ala391Ser
NM_005211.4:c.1171G>T	NP_005202.2:p.Ala391Ser
NR_109969.2:n.1298G>T