Canonical Allele Identifier: CA361760049

Gene: CSF1R

Linked Data

• MyVariant Identifiers: chr5:g.149436886T>A (hg19) ; chr5:g.150057323T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057323T>A , CM000667.2:g.150057323T>A	GRCh38
NC_000005.9:g.149436886T>A , CM000667.1:g.149436886T>A	GRCh37
NC_000005.8:g.149417079T>A	NCBI36
NG_012303.1:g.61050A>T
NG_012303.2:g.61050A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2283A>T MANE Select	ENSP00000501699.1:p.Gln761His
ENST00000286301.7:c.2283A>T	ENSP00000286301.3:p.Gln761His
ENST00000504875.5:c.*104A>T	ENSP00000422212.1:n.*104A>T
ENST00000515068.1:c.452A>T	ENSP00000427545.1:n.452A>T
NM_001288705.1:c.2283A>T	NP_001275634.1:p.Gln761His
NM_005211.3:c.2283A>T	NP_005202.2:p.Gln761His
NR_109969.1:n.2333A>T
NM_001288705.2:c.2283A>T	NP_001275634.1:p.Gln761His
NM_001349736.1:c.2283A>T	NP_001336665.1:p.Gln761His
NM_001288705.3:c.2283A>T MANE Select	NP_001275634.1:p.Gln761His
NM_001375320.1:c.2283A>T	NP_001362249.1:p.Gln761His
NM_001375321.1:c.1839A>T	NP_001362250.1:p.Gln613His
NR_164679.1:n.2176A>T
NM_001349736.2:c.2283A>T	NP_001336665.1:p.Gln761His
NM_005211.4:c.2283A>T	NP_005202.2:p.Gln761His
NR_109969.2:n.2247A>T