Canonical Allele Identifier: CA10330963

Gene: CSF2RA

Linked Data

• ClinVar Variation Id: 1050959
• ClinVar RCV Id: RCV001358932
• dbSNP Id: rs762456506
• ExAC: X:1413293 C / T
• gnomAD v2: X-1413293-C-T
• gnomAD v3: X-1294400-C-T
• gnomAD v4: X-1294400-C-T
• MyVariant Identifiers: chrX:g.1413293C>T (hg19) ; chrX:g.1294400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1294400C>T , CM000685.2:g.1294400C>T	GRCh38
NC_000023.10:g.1413293C>T , CM000685.1:g.1413293C>T	GRCh37
NC_000023.9:g.1373293C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498153.7:c.719C>T	ENSP00000512483.1:p.Pro240Leu
ENST00000696230.1:c.*802C>T	ENSP00000512496.1:n.*802C>T
ENST00000381529.9:c.719C>T MANE Select	ENSP00000370940.3:p.Pro240Leu
ENST00000432318.8:c.719C>T	ENSP00000416437.2:p.Pro240Leu
ENST00000355432.8:c.719C>T	ENSP00000347606.3:p.Pro240Leu
ENST00000355805.7:c.646+3891C>T	ENSP00000348058.2:n.646+3891C>T
ENST00000381500.6:c.719C>T	ENSP00000370911.1:p.Pro240Leu
ENST00000381509.8:c.719C>T	ENSP00000370920.3:p.Pro240Leu
ENST00000381524.8:c.719C>T	ENSP00000370935.3:p.Pro240Leu
ENST00000381529.8:c.719C>T	ENSP00000370940.3:p.Pro240Leu
ENST00000417535.7:c.719C>T	ENSP00000394227.2:p.Pro240Leu
ENST00000432318.7:c.719C>T	ENSP00000416437.2:p.Pro240Leu
ENST00000475259.6:n.130C>T
ENST00000486791.6:c.719C>T	ENSP00000436825.1:p.Pro240Leu
ENST00000491683.6:n.176C>T
ENST00000493312.6:n.756C>T
ENST00000494969.7:c.244+7202C>T	ENSP00000476684.1:n.244+7202C>T
ENST00000498153.6:n.73C>T
ENST00000501036.7:c.320C>T	ENSP00000440491.1:p.Pro107Leu
XM_011546165.1:c.719C>T	XP_011544467.1:p.Pro240Leu
XM_011546166.1:c.719C>T	XP_011544468.1:p.Pro240Leu
XM_011546167.1:c.719C>T	XP_011544469.1:p.Pro240Leu
XM_011546168.1:c.719C>T	XP_011544470.1:p.Pro240Leu
XM_011546169.1:c.719C>T	XP_011544471.1:p.Pro240Leu
XM_011546170.1:c.719C>T	XP_011544472.1:p.Pro240Leu
XM_011546171.1:c.719C>T	XP_011544473.1:p.Pro240Leu
XM_011546172.1:c.719C>T	XP_011544474.1:p.Pro240Leu
XM_011546173.1:c.719C>T	XP_011544475.1:p.Pro240Leu
XM_011546174.1:c.719C>T	XP_011544476.1:p.Pro240Leu
XM_011546175.1:c.719C>T	XP_011544477.1:p.Pro240Leu
XM_011546176.1:c.587C>T	XP_011544478.1:p.Pro196Leu
XM_011546165.3:c.719C>T	XP_011544467.1:p.Pro240Leu
XM_011546167.2:c.719C>T	XP_011544469.1:p.Pro240Leu
XM_011546168.2:c.719C>T	XP_011544470.1:p.Pro240Leu
XM_011546170.3:c.719C>T	XP_011544472.1:p.Pro240Leu
XM_011546174.3:c.719C>T	XP_011544476.1:p.Pro240Leu
XM_011546175.2:c.719C>T	XP_011544477.1:p.Pro240Leu
XM_017029287.1:c.719C>T	XP_016884776.1:p.Pro240Leu
XM_017029288.1:c.719C>T	XP_016884777.1:p.Pro240Leu