Canonical Allele Identifier: CA389594806

Gene: FANCM

Linked Data

• ClinVar Variation Id: 1447638
• ClinVar RCV Id: RCV001979922 ; RCV003401952
• dbSNP Id: rs1343909660
• gnomAD v3: 14-45166966-A-G
• gnomAD v4: 14-45166966-A-G
• MyVariant Identifiers: chr14:g.45636169A>G (hg19) ; chr14:g.45166966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45166966A>G , CM000676.2:g.45166966A>G	GRCh38
NC_000014.8:g.45636169A>G , CM000676.1:g.45636169A>G	GRCh37
NC_000014.7:g.44705919A>G	NCBI36
NG_007417.1:g.36034A>G , LRG_502:g.36034A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000554809.6:c.17A>G	ENSP00000450632.2:p.Gln6Arg
ENST00000556036.6:c.1805A>G	ENSP00000450596.1:p.Gln602Arg
ENST00000556250.6:c.1598A>G	ENSP00000452033.2:p.Gln533Arg
ENST00000696641.1:c.1646A>G	ENSP00000512774.1:p.Gln549Arg
ENST00000696642.1:c.*616A>G	ENSP00000512775.1:n.*616A>G
ENST00000696646.1:c.*616A>G	ENSP00000512777.1:n.*616A>G
ENST00000696647.1:c.1805A>G	ENSP00000512778.1:p.Gln602Arg
ENST00000696648.1:c.1805A>G	ENSP00000512779.1:p.Gln602Arg
ENST00000696649.1:c.1805A>G	ENSP00000512780.1:p.Gln602Arg
ENST00000696650.1:n.1753A>G
ENST00000696658.1:n.2355A>G
ENST00000696662.1:c.1727A>G	ENSP00000512788.1:p.Gln576Arg
ENST00000696663.1:c.622A>G
ENST00000696664.1:c.622A>G
ENST00000696675.1:c.1805A>G	ENSP00000512799.1:p.Gln602Arg
ENST00000696683.1:c.622A>G
ENST00000696684.1:c.622A>G
ENST00000696685.1:c.622A>G
ENST00000267430.10:c.1805A>G MANE Select	ENSP00000267430.5:p.Gln602Arg
ENST00000267430.9:c.1805A>G	ENSP00000267430.5:p.Gln602Arg
ENST00000542564.6:c.1727A>G	ENSP00000442493.2:p.Gln576Arg
ENST00000556036.5:c.1805A>G	ENSP00000450596.1:p.Gln602Arg
ENST00000556250.5:c.353A>G	ENSP00000452033.1:p.Gln118Arg
NM_001308133.1:c.1727A>G	NP_001295062.1:p.Gln576Arg
NM_001308134.1:c.1805A>G	NP_001295063.1:p.Gln602Arg
NM_020937.2:c.1805A>G , LRG_502t1:c.1805A>G	NP_065988.1:p.Gln602Arg
NM_020937.3:c.1805A>G	NP_065988.1:p.Gln602Arg
XM_011537034.1:c.1805A>G	XP_011535336.1:p.Gln602Arg
XM_011537035.1:c.1727A>G	XP_011535337.1:p.Gln576Arg
XM_011537036.1:c.1805A>G	XP_011535338.1:p.Gln602Arg
XM_011537034.2:c.1805A>G	XP_011535336.1:p.Gln602Arg
XM_011537035.3:c.1727A>G	XP_011535337.1:p.Gln576Arg
XM_017021523.1:c.1805A>G	XP_016877012.1:p.Gln602Arg
XM_017021524.2:c.842A>G	XP_016877013.1:p.Gln281Arg
XM_017021525.2:c.620A>G	XP_016877014.1:p.Gln207Arg
XM_017021526.2:c.620A>G	XP_016877015.1:p.Gln207Arg
XM_017021527.1:c.620A>G	XP_016877016.1:p.Gln207Arg
XR_001750470.1:n.1897A>G
XR_001750471.2:n.1897A>G
XR_001750472.1:n.1897A>G
NM_020937.4:c.1805A>G MANE Select	NP_065988.1:p.Gln602Arg
NM_001308133.2:c.1727A>G	NP_001295062.1:p.Gln576Arg
NM_001308134.2:c.1805A>G	NP_001295063.1:p.Gln602Arg