Canonical Allele Identifier: CA768894

Gene: CSF3R

Linked Data

• ClinVar Variation Id: 1026532
• ClinVar RCV Id: RCV001326995 ; RCV001820017
• dbSNP Id: rs567871402
• ExAC: 1:36932041 C / T
• gnomAD v2: 1-36932041-C-T
• gnomAD v3: 1-36466440-C-T
• gnomAD v4: 1-36466440-C-T
• MyVariant Identifiers: chr1:g.36932041C>T (hg19) ; chr1:g.36466440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36466440C>T , CM000663.2:g.36466440C>T	GRCh38
NC_000001.10:g.36932041C>T , CM000663.1:g.36932041C>T	GRCh37
NC_000001.9:g.36704628C>T	NCBI36
NG_016270.1:g.21469G>A , LRG_144:g.21469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464465.7:c.2326G>A	ENSP00000435218.2:p.Asp776Asn
ENST00000487540.7:c.*722G>A	ENSP00000514169.2:n.*722G>A
ENST00000699089.1:n.3408G>A
ENST00000699090.1:c.2032G>A	ENSP00000514168.1:p.Asp678Asn
ENST00000373106.6:c.2428G>A MANE Select	ENSP00000362198.2:p.Asp810Asn
ENST00000331941.6:c.2247+181G>A	ENSP00000332180.5:n.2247+181G>A
ENST00000361632.8:c.2428G>A	ENSP00000355406.4:p.Asp810Asn
ENST00000373103.5:c.2509G>A	ENSP00000362195.1:p.Asp837Asn
ENST00000373104.5:c.2247+181G>A	ENSP00000362196.1:n.2247+181G>A
ENST00000373106.5:c.2428G>A	ENSP00000362198.1:p.Asp810Asn
ENST00000464465.6:c.1083G>A
ENST00000480825.6:n.5678G>A
ENST00000487540.6:n.1609G>A
NM_000760.3:c.2428G>A	NP_000751.1:p.Asp810Asn
NM_156039.3:c.2509G>A , LRG_144t1:c.2509G>A	NP_724781.1:p.Asp837Asn
NM_172313.2:c.2247+181G>A	NP_758519.1:n.2247+181G>A
XM_005270493.1:c.2425G>A	XP_005270550.1:p.Asp809Asn
XM_011540748.1:c.2509G>A	XP_011539050.1:p.Asp837Asn
XM_011540749.1:c.2506G>A	XP_011539051.1:p.Asp836Asn
XM_011540750.1:c.1837G>A	XP_011539052.1:p.Asp613Asn
XM_011540748.3:c.2509G>A	XP_011539050.1:p.Asp837Asn
XM_017000370.1:c.2509G>A	XP_016855859.1:p.Asp837Asn
NM_000760.4:c.2428G>A MANE Select	NP_000751.1:p.Asp810Asn
NM_172313.3:c.2247+181G>A	NP_758519.1:n.2247+181G>A