Canonical Allele Identifier: CA768896

Gene: CSF3R

Linked Data

• ClinVar Variation Id: 434833
• ClinVar RCV Id: RCV000503532 ; RCV000653392 ; RCV002496944 ; RCV003222007
• dbSNP Id: rs146617729
• ExAC: 1:36932047 C / T
• gnomAD v2: 1-36932047-C-T
• gnomAD v3: 1-36466446-C-T
• gnomAD v4: 1-36466446-C-T
• MyVariant Identifiers: chr1:g.36932047C>T (hg19) ; chr1:g.36466446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36466446C>T , CM000663.2:g.36466446C>T	GRCh38
NC_000001.10:g.36932047C>T , CM000663.1:g.36932047C>T	GRCh37
NC_000001.9:g.36704634C>T	NCBI36
NG_016270.1:g.21463G>A , LRG_144:g.21463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464465.7:c.2320G>A	ENSP00000435218.2:p.Glu774Lys
ENST00000487540.7:c.*716G>A	ENSP00000514169.2:n.*716G>A
ENST00000699089.1:n.3402G>A
ENST00000699090.1:c.2026G>A	ENSP00000514168.1:p.Glu676Lys
ENST00000373106.6:c.2422G>A MANE Select	ENSP00000362198.2:p.Glu808Lys
ENST00000331941.6:c.2247+175G>A	ENSP00000332180.5:n.2247+175G>A
ENST00000361632.8:c.2422G>A	ENSP00000355406.4:p.Glu808Lys
ENST00000373103.5:c.2503G>A	ENSP00000362195.1:p.Glu835Lys
ENST00000373104.5:c.2247+175G>A	ENSP00000362196.1:n.2247+175G>A
ENST00000373106.5:c.2422G>A	ENSP00000362198.1:p.Glu808Lys
ENST00000464465.6:c.1077G>A
ENST00000480825.6:n.5672G>A
ENST00000487540.6:n.1603G>A
NM_000760.3:c.2422G>A	NP_000751.1:p.Glu808Lys
NM_156039.3:c.2503G>A , LRG_144t1:c.2503G>A	NP_724781.1:p.Glu835Lys
NM_172313.2:c.2247+175G>A	NP_758519.1:n.2247+175G>A
XM_005270493.1:c.2419G>A	XP_005270550.1:p.Glu807Lys
XM_011540748.1:c.2503G>A	XP_011539050.1:p.Glu835Lys
XM_011540749.1:c.2500G>A	XP_011539051.1:p.Glu834Lys
XM_011540750.1:c.1831G>A	XP_011539052.1:p.Glu611Lys
XM_011540748.3:c.2503G>A	XP_011539050.1:p.Glu835Lys
XM_017000370.1:c.2503G>A	XP_016855859.1:p.Glu835Lys
NM_000760.4:c.2422G>A MANE Select	NP_000751.1:p.Glu808Lys
NM_172313.3:c.2247+175G>A	NP_758519.1:n.2247+175G>A