Canonical Allele Identifier: CA10330962

Gene: CSF2RA

Linked Data

• dbSNP Id: rs777155954
• ExAC: X:1413291 G / C
• gnomAD v2: X-1413291-G-C
• gnomAD v3: X-1294398-G-C
• gnomAD v4: X-1294398-G-C
• MyVariant Identifiers: chrX:g.1413291G>C (hg19) ; chrX:g.1294398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1294398G>C , CM000685.2:g.1294398G>C	GRCh38
NC_000023.10:g.1413291G>C , CM000685.1:g.1413291G>C	GRCh37
NC_000023.9:g.1373291G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498153.7:c.717G>C	ENSP00000512483.1:p.Gln239His
ENST00000696230.1:c.*800G>C	ENSP00000512496.1:n.*800G>C
ENST00000381529.9:c.717G>C MANE Select	ENSP00000370940.3:p.Gln239His
ENST00000432318.8:c.717G>C	ENSP00000416437.2:p.Gln239His
ENST00000355432.8:c.717G>C	ENSP00000347606.3:p.Gln239His
ENST00000355805.7:c.646+3889G>C	ENSP00000348058.2:n.646+3889G>C
ENST00000381500.6:c.717G>C	ENSP00000370911.1:p.Gln239His
ENST00000381509.8:c.717G>C	ENSP00000370920.3:p.Gln239His
ENST00000381524.8:c.717G>C	ENSP00000370935.3:p.Gln239His
ENST00000381529.8:c.717G>C	ENSP00000370940.3:p.Gln239His
ENST00000417535.7:c.717G>C	ENSP00000394227.2:p.Gln239His
ENST00000432318.7:c.717G>C	ENSP00000416437.2:p.Gln239His
ENST00000475259.6:n.128G>C
ENST00000486791.6:c.717G>C	ENSP00000436825.1:p.Gln239His
ENST00000491683.6:n.174G>C
ENST00000493312.6:n.754G>C
ENST00000494969.7:c.244+7200G>C	ENSP00000476684.1:n.244+7200G>C
ENST00000498153.6:n.71G>C
ENST00000501036.7:c.318G>C	ENSP00000440491.1:p.Gln106His
XM_011546165.1:c.717G>C	XP_011544467.1:p.Gln239His
XM_011546166.1:c.717G>C	XP_011544468.1:p.Gln239His
XM_011546167.1:c.717G>C	XP_011544469.1:p.Gln239His
XM_011546168.1:c.717G>C	XP_011544470.1:p.Gln239His
XM_011546169.1:c.717G>C	XP_011544471.1:p.Gln239His
XM_011546170.1:c.717G>C	XP_011544472.1:p.Gln239His
XM_011546171.1:c.717G>C	XP_011544473.1:p.Gln239His
XM_011546172.1:c.717G>C	XP_011544474.1:p.Gln239His
XM_011546173.1:c.717G>C	XP_011544475.1:p.Gln239His
XM_011546174.1:c.717G>C	XP_011544476.1:p.Gln239His
XM_011546175.1:c.717G>C	XP_011544477.1:p.Gln239His
XM_011546176.1:c.585G>C	XP_011544478.1:p.Gln195His
XM_011546165.3:c.717G>C	XP_011544467.1:p.Gln239His
XM_011546167.2:c.717G>C	XP_011544469.1:p.Gln239His
XM_011546168.2:c.717G>C	XP_011544470.1:p.Gln239His
XM_011546170.3:c.717G>C	XP_011544472.1:p.Gln239His
XM_011546174.3:c.717G>C	XP_011544476.1:p.Gln239His
XM_011546175.2:c.717G>C	XP_011544477.1:p.Gln239His
XM_017029287.1:c.717G>C	XP_016884776.1:p.Gln239His
XM_017029288.1:c.717G>C	XP_016884777.1:p.Gln239His