Canonical Allele Identifier: CA389608217

Gene: FANCM

Linked Data

• ClinVar Variation Id: 1319238
• ClinVar RCV Id: RCV003238546
• dbSNP Id: rs1889328925
• MyVariant Identifiers: chr14:g.45654490A>G (hg19) ; chr14:g.45185287A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185287A>G , CM000676.2:g.45185287A>G	GRCh38
NC_000014.8:g.45654490A>G , CM000676.1:g.45654490A>G	GRCh37
NC_000014.7:g.44724240A>G	NCBI36
NG_007417.1:g.54355A>G , LRG_502:g.54355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2798A>G	ENSP00000450632.2:p.Asp933Gly
ENST00000555484.2:c.364A>G
ENST00000556250.6:c.4379A>G	ENSP00000452033.2:p.Asp1460Gly
ENST00000557110.2:c.364A>G
ENST00000696642.1:c.*3397A>G	ENSP00000512775.1:n.*3397A>G
ENST00000696644.1:n.322A>G
ENST00000696645.1:n.476A>G
ENST00000696647.1:c.4586A>G	ENSP00000512778.1:p.Asp1529Gly
ENST00000696648.1:c.*2611A>G	ENSP00000512779.1:n.*2611A>G
ENST00000696649.1:c.4430A>G	ENSP00000512780.1:p.Asp1477Gly
ENST00000696650.1:n.4534A>G
ENST00000696659.1:c.2584A>G
ENST00000696663.1:c.3517A>G
ENST00000696664.1:c.3418A>G
ENST00000696665.1:c.364A>G
ENST00000696675.1:c.*342A>G	ENSP00000512799.1:n.*342A>G
ENST00000696683.1:c.3403A>G
ENST00000696684.1:c.3403A>G
ENST00000696685.1:c.3403A>G
ENST00000696686.1:n.1323A>G
ENST00000267430.10:c.4586A>G MANE Select	ENSP00000267430.5:p.Asp1529Gly
ENST00000267430.9:c.4586A>G	ENSP00000267430.5:p.Asp1529Gly
ENST00000542564.6:c.4508A>G	ENSP00000442493.2:p.Asp1503Gly
ENST00000554809.5:c.1383A>G
ENST00000555013.1:n.419A>G
ENST00000556250.5:c.3134A>G	ENSP00000452033.1:p.Asp1045Gly
NM_001308133.1:c.4508A>G	NP_001295062.1:p.Asp1503Gly
NM_020937.2:c.4586A>G , LRG_502t1:c.4586A>G	NP_065988.1:p.Asp1529Gly
NM_020937.3:c.4586A>G	NP_065988.1:p.Asp1529Gly
XM_011537034.1:c.4601A>G	XP_011535336.1:p.Asp1534Gly
XM_011537035.1:c.4523A>G	XP_011535337.1:p.Asp1508Gly
XM_011537036.1:c.4601A>G	XP_011535338.1:p.Asp1534Gly
XM_011537037.1:c.2615A>G	XP_011535339.1:p.Asp872Gly
XM_011537034.2:c.4601A>G	XP_011535336.1:p.Asp1534Gly
XM_011537035.3:c.4523A>G	XP_011535337.1:p.Asp1508Gly
XM_011537037.3:c.2615A>G	XP_011535339.1:p.Asp872Gly
XM_017021523.1:c.4601A>G	XP_016877012.1:p.Asp1534Gly
XM_017021524.2:c.3638A>G	XP_016877013.1:p.Asp1213Gly
XM_017021525.2:c.3416A>G	XP_016877014.1:p.Asp1139Gly
XM_017021526.2:c.3416A>G	XP_016877015.1:p.Asp1139Gly
XM_017021527.1:c.3401A>G	XP_016877016.1:p.Asp1134Gly
XR_001750470.1:n.4693A>G
XR_001750471.2:n.4678A>G
XR_001750472.1:n.4730A>G
NM_020937.4:c.4586A>G MANE Select	NP_065988.1:p.Asp1529Gly
NM_001308133.2:c.4508A>G	NP_001295062.1:p.Asp1503Gly