Canonical Allele Identifier: CA389608230

Gene: FANCM

Linked Data

• ClinVar Variation Id: 2079135
• ClinVar RCV Id: RCV002982732
• MyVariant Identifiers: chr14:g.45654495A>G (hg19) ; chr14:g.45185292A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185292A>G , CM000676.2:g.45185292A>G	GRCh38
NC_000014.8:g.45654495A>G , CM000676.1:g.45654495A>G	GRCh37
NC_000014.7:g.44724245A>G	NCBI36
NG_007417.1:g.54360A>G , LRG_502:g.54360A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2803A>G	ENSP00000450632.2:p.Asn935Asp
ENST00000555484.2:c.369A>G
ENST00000556250.6:c.4384A>G	ENSP00000452033.2:p.Asn1462Asp
ENST00000557110.2:c.369A>G
ENST00000696642.1:c.*3402A>G	ENSP00000512775.1:n.*3402A>G
ENST00000696644.1:n.327A>G
ENST00000696645.1:n.481A>G
ENST00000696647.1:c.4591A>G	ENSP00000512778.1:p.Asn1531Asp
ENST00000696648.1:c.*2616A>G	ENSP00000512779.1:n.*2616A>G
ENST00000696649.1:c.4435A>G	ENSP00000512780.1:p.Asn1479Asp
ENST00000696650.1:n.4539A>G
ENST00000696659.1:c.2589A>G
ENST00000696663.1:c.3522A>G
ENST00000696664.1:c.3423A>G
ENST00000696665.1:c.369A>G
ENST00000696675.1:c.*347A>G	ENSP00000512799.1:n.*347A>G
ENST00000696683.1:c.3408A>G
ENST00000696684.1:c.3408A>G
ENST00000696685.1:c.3408A>G
ENST00000696686.1:n.1328A>G
ENST00000267430.10:c.4591A>G MANE Select	ENSP00000267430.5:p.Asn1531Asp
ENST00000267430.9:c.4591A>G	ENSP00000267430.5:p.Asn1531Asp
ENST00000542564.6:c.4513A>G	ENSP00000442493.2:p.Asn1505Asp
ENST00000554809.5:c.1388A>G
ENST00000555013.1:n.424A>G
ENST00000556250.5:c.3139A>G	ENSP00000452033.1:p.Asn1047Asp
NM_001308133.1:c.4513A>G	NP_001295062.1:p.Asn1505Asp
NM_020937.2:c.4591A>G , LRG_502t1:c.4591A>G	NP_065988.1:p.Asn1531Asp
NM_020937.3:c.4591A>G	NP_065988.1:p.Asn1531Asp
XM_011537034.1:c.4606A>G	XP_011535336.1:p.Asn1536Asp
XM_011537035.1:c.4528A>G	XP_011535337.1:p.Asn1510Asp
XM_011537036.1:c.4606A>G	XP_011535338.1:p.Asn1536Asp
XM_011537037.1:c.2620A>G	XP_011535339.1:p.Asn874Asp
XM_011537034.2:c.4606A>G	XP_011535336.1:p.Asn1536Asp
XM_011537035.3:c.4528A>G	XP_011535337.1:p.Asn1510Asp
XM_011537037.3:c.2620A>G	XP_011535339.1:p.Asn874Asp
XM_017021523.1:c.4606A>G	XP_016877012.1:p.Asn1536Asp
XM_017021524.2:c.3643A>G	XP_016877013.1:p.Asn1215Asp
XM_017021525.2:c.3421A>G	XP_016877014.1:p.Asn1141Asp
XM_017021526.2:c.3421A>G	XP_016877015.1:p.Asn1141Asp
XM_017021527.1:c.3406A>G	XP_016877016.1:p.Asn1136Asp
XR_001750470.1:n.4698A>G
XR_001750471.2:n.4683A>G
XR_001750472.1:n.4735A>G
NM_020937.4:c.4591A>G MANE Select	NP_065988.1:p.Asn1531Asp
NM_001308133.2:c.4513A>G	NP_001295062.1:p.Asn1505Asp