Canonical Allele Identifier: CA389608170

Gene: FANCM

Linked Data

• ClinVar Variation Id: 2038723
• ClinVar RCV Id: RCV002907696
• gnomAD v4: 14-45185263-A-T
• MyVariant Identifiers: chr14:g.45654466A>T (hg19) ; chr14:g.45185263A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185263A>T , CM000676.2:g.45185263A>T	GRCh38
NC_000014.8:g.45654466A>T , CM000676.1:g.45654466A>T	GRCh37
NC_000014.7:g.44724216A>T	NCBI36
NG_007417.1:g.54331A>T , LRG_502:g.54331A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2774A>T	ENSP00000450632.2:p.Glu925Val
ENST00000555484.2:c.340A>T
ENST00000556250.6:c.4355A>T	ENSP00000452033.2:p.Glu1452Val
ENST00000557110.2:c.340A>T
ENST00000696642.1:c.*3373A>T	ENSP00000512775.1:n.*3373A>T
ENST00000696644.1:n.298A>T
ENST00000696645.1:n.452A>T
ENST00000696647.1:c.4562A>T	ENSP00000512778.1:p.Glu1521Val
ENST00000696648.1:c.*2587A>T	ENSP00000512779.1:n.*2587A>T
ENST00000696649.1:c.4406A>T	ENSP00000512780.1:p.Glu1469Val
ENST00000696650.1:n.4510A>T
ENST00000696659.1:c.2560A>T
ENST00000696663.1:c.3493A>T
ENST00000696664.1:c.3394A>T
ENST00000696665.1:c.340A>T
ENST00000696675.1:c.*318A>T	ENSP00000512799.1:n.*318A>T
ENST00000696683.1:c.3379A>T
ENST00000696684.1:c.3379A>T
ENST00000696685.1:c.3379A>T
ENST00000696686.1:n.1299A>T
ENST00000267430.10:c.4562A>T MANE Select	ENSP00000267430.5:p.Glu1521Val
ENST00000267430.9:c.4562A>T	ENSP00000267430.5:p.Glu1521Val
ENST00000542564.6:c.4484A>T	ENSP00000442493.2:p.Glu1495Val
ENST00000554809.5:c.1359A>T
ENST00000555013.1:n.395A>T
ENST00000556250.5:c.3110A>T	ENSP00000452033.1:p.Glu1037Val
NM_001308133.1:c.4484A>T	NP_001295062.1:p.Glu1495Val
NM_020937.2:c.4562A>T , LRG_502t1:c.4562A>T	NP_065988.1:p.Glu1521Val
NM_020937.3:c.4562A>T	NP_065988.1:p.Glu1521Val
XM_011537034.1:c.4577A>T	XP_011535336.1:p.Glu1526Val
XM_011537035.1:c.4499A>T	XP_011535337.1:p.Glu1500Val
XM_011537036.1:c.4577A>T	XP_011535338.1:p.Glu1526Val
XM_011537037.1:c.2591A>T	XP_011535339.1:p.Glu864Val
XM_011537034.2:c.4577A>T	XP_011535336.1:p.Glu1526Val
XM_011537035.3:c.4499A>T	XP_011535337.1:p.Glu1500Val
XM_011537037.3:c.2591A>T	XP_011535339.1:p.Glu864Val
XM_017021523.1:c.4577A>T	XP_016877012.1:p.Glu1526Val
XM_017021524.2:c.3614A>T	XP_016877013.1:p.Glu1205Val
XM_017021525.2:c.3392A>T	XP_016877014.1:p.Glu1131Val
XM_017021526.2:c.3392A>T	XP_016877015.1:p.Glu1131Val
XM_017021527.1:c.3377A>T	XP_016877016.1:p.Glu1126Val
XR_001750470.1:n.4669A>T
XR_001750471.2:n.4654A>T
XR_001750472.1:n.4706A>T
NM_020937.4:c.4562A>T MANE Select	NP_065988.1:p.Glu1521Val
NM_001308133.2:c.4484A>T	NP_001295062.1:p.Glu1495Val