Canonical Allele Identifier: CA204418

Gene: CSF3R

Linked Data

• ClinVar Variation Id: 208339
• ClinVar RCV Id: RCV000190419 ; RCV000426562 ; RCV000436788 ; RCV001070576 ; RCV001269671
• dbSNP Id: rs796065343
• COSMIC: COSM1737962 ; COSM4169901
• MyVariant Identifiers: chr1:g.36933434G>A (hg19) ; chr1:g.36467833G>A (hg38)
• PubMed: PMID:23634996 ; PMID:23656643 ; PMID:27148573
• CIViC: CA204418

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36467833G>A , CM000663.2:g.36467833G>A	GRCh38
NC_000001.10:g.36933434G>A , CM000663.1:g.36933434G>A	GRCh37
NC_000001.9:g.36706021G>A	NCBI36
NG_016270.1:g.20076C>T , LRG_144:g.20076C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000464465.7:c.1751C>T	ENSP00000435218.2:p.Thr584Ile
ENST00000487540.7:c.*147C>T	ENSP00000514169.2:n.*147C>T
ENST00000699089.1:n.2833C>T
ENST00000699090.1:c.1457C>T	ENSP00000514168.1:p.Thr486Ile
ENST00000373106.6:c.1853C>T MANE Select	ENSP00000362198.2:p.Thr618Ile
ENST00000331941.6:c.1853C>T	ENSP00000332180.5:p.Thr618Ile
ENST00000361632.8:c.1853C>T	ENSP00000355406.4:p.Thr618Ile
ENST00000373103.5:c.1853C>T	ENSP00000362195.1:p.Thr618Ile
ENST00000373104.5:c.1853C>T	ENSP00000362196.1:p.Thr618Ile
ENST00000373106.5:c.1853C>T	ENSP00000362198.1:p.Thr618Ile
ENST00000464465.6:c.508C>T
ENST00000480825.6:n.4701C>T
ENST00000484762.1:n.244C>T
ENST00000487540.6:n.1034C>T
NM_000760.3:c.1853C>T	NP_000751.1:p.Thr618Ile
NM_156039.3:c.1853C>T , LRG_144t1:c.1853C>T	NP_724781.1:p.Thr618Ile
NM_172313.2:c.1853C>T	NP_758519.1:p.Thr618Ile
XM_005270493.1:c.1853C>T	XP_005270550.1:p.Thr618Ile
XM_011540748.1:c.1853C>T	XP_011539050.1:p.Thr618Ile
XM_011540749.1:c.1853C>T	XP_011539051.1:p.Thr618Ile
XM_011540750.1:c.1181C>T	XP_011539052.1:p.Thr394Ile
XM_011540748.3:c.1853C>T	XP_011539050.1:p.Thr618Ile
XM_017000370.1:c.1853C>T	XP_016855859.1:p.Thr618Ile
NM_000760.4:c.1853C>T MANE Select	NP_000751.1:p.Thr618Ile
NM_172313.3:c.1853C>T	NP_758519.1:p.Thr618Ile