Canonical Allele Identifier: CA3506490

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 2416263
• ClinVar RCV Id: RCV003107012
• dbSNP Id: rs781385572
• ExAC: 5:149436927 G / A
• gnomAD v2: 5-149436927-G-A
• gnomAD v3: 5-150057364-G-A
• gnomAD v4: 5-150057364-G-A
• MyVariant Identifiers: chr5:g.149436927G>A (hg19) ; chr5:g.150057364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057364G>A , CM000667.2:g.150057364G>A	GRCh38
NC_000005.9:g.149436927G>A , CM000667.1:g.149436927G>A	GRCh37
NC_000005.8:g.149417120G>A	NCBI36
NG_012303.1:g.61009C>T
NG_012303.2:g.61009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2242C>T MANE Select	ENSP00000501699.1:p.Arg748Trp
ENST00000286301.7:c.2242C>T	ENSP00000286301.3:p.Arg748Trp
ENST00000504875.5:c.*63C>T	ENSP00000422212.1:n.*63C>T
ENST00000515068.1:c.411C>T	ENSP00000427545.1:n.411C>T
NM_001288705.1:c.2242C>T	NP_001275634.1:p.Arg748Trp
NM_005211.3:c.2242C>T	NP_005202.2:p.Arg748Trp
NR_109969.1:n.2292C>T
NM_001288705.2:c.2242C>T	NP_001275634.1:p.Arg748Trp
NM_001349736.1:c.2242C>T	NP_001336665.1:p.Arg748Trp
NM_001288705.3:c.2242C>T MANE Select	NP_001275634.1:p.Arg748Trp
NM_001375320.1:c.2242C>T	NP_001362249.1:p.Arg748Trp
NM_001375321.1:c.1798C>T	NP_001362250.1:p.Arg600Trp
NR_164679.1:n.2135C>T
NM_001349736.2:c.2242C>T	NP_001336665.1:p.Arg748Trp
NM_005211.4:c.2242C>T	NP_005202.2:p.Arg748Trp
NR_109969.2:n.2206C>T