Canonical Allele Identifier: CA768968
Community Standard Title: NM_000760.4(CSF3R):c.2041-30C>T
Gene: CSF3R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.36466857G>A , CM000663.2:g.36466857G>A GRCh38
NC_000001.10:g.36932458G>A , CM000663.1:g.36932458G>A GRCh37
NC_000001.9:g.36705045G>A NCBI36
NG_016270.1:g.21052C>T , LRG_144:g.21052C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000760.4:c.2041-30C>T MANE Select NP_000751.1:n.2041-30C>T
ENST00000373106.6:c.2041-30C>T MANE Select ENSP00000362198.2:n.2041-30C>T
NM_000760.3:c.2041-30C>T NP_000751.1:n.2041-30C>T
NM_156039.3:c.2092C>T , LRG_144t1:c.2092C>T NP_724781.1:p.Arg698Cys
NM_172313.2:c.2041-30C>T NP_758519.1:n.2041-30C>T
NM_172313.3:c.2041-30C>T NP_758519.1:n.2041-30C>T
ENST00000331941.6:c.2041-30C>T ENSP00000332180.5:n.2041-30C>T
ENST00000361632.8:c.2041-30C>T ENSP00000355406.4:n.2041-30C>T
ENST00000373103.5:c.2092C>T ENSP00000362195.1:p.Arg698Cys
ENST00000373104.5:c.2041-30C>T ENSP00000362196.1:n.2041-30C>T
ENST00000373106.5:c.2041-30C>T ENSP00000362198.1:n.2041-30C>T
ENST00000464465.6:c.696-30C>T
ENST00000464465.7:c.1939-30C>T ENSP00000435218.2:n.1939-30C>T
ENST00000480825.6:n.5261C>T
ENST00000484762.1:n.432-30C>T
ENST00000487540.6:n.1222-30C>T
ENST00000487540.7:c.*335-30C>T ENSP00000514169.2:n.*335-30C>T
ENST00000699089.1:n.3021-30C>T
ENST00000699090.1:c.1645-30C>T ENSP00000514168.1:n.1645-30C>T
XM_005270493.1:c.2038-30C>T XP_005270550.1:n.2038-30C>T
XM_011540748.1:c.2092C>T XP_011539050.1:p.Arg698Cys
XM_011540748.3:c.2092C>T XP_011539050.1:p.Arg698Cys
XM_011540749.1:c.2089C>T XP_011539051.1:p.Arg697Cys
XM_011540750.1:c.1420C>T XP_011539052.1:p.Arg474Cys
XM_017000370.1:c.2092C>T XP_016855859.1:p.Arg698Cys