Canonical Allele Identifier: CA486347460

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45176759A>G , CM000676.2:g.45176759A>G	GRCh38
NC_000014.8:g.45645962A>G , CM000676.1:g.45645962A>G	GRCh37
NC_000014.7:g.44715712A>G	NCBI36
NG_007417.1:g.45827A>G , LRG_502:g.45827A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.4005A>G MANE Select	NP_065988.1:p.Lys1335=
ENST00000267430.10:c.4005A>G MANE Select	ENSP00000267430.5:p.Lys1335=
NM_001308133.1:c.3927A>G	NP_001295062.1:p.Lys1309=
NM_001308133.2:c.3927A>G	NP_001295062.1:p.Lys1309=
NM_020937.2:c.4005A>G , LRG_502t1:c.4005A>G	NP_065988.1:p.Lys1335=
NM_020937.3:c.4005A>G	NP_065988.1:p.Lys1335=
ENST00000267430.9:c.4005A>G	ENSP00000267430.5:p.Lys1335=
ENST00000542564.6:c.3927A>G	ENSP00000442493.2:p.Lys1309=
ENST00000554809.5:c.802A>G
ENST00000554809.6:c.2217A>G	ENSP00000450632.2:p.Lys739=
ENST00000556250.5:c.2553A>G	ENSP00000452033.1:p.Lys851=
ENST00000556250.6:c.3798A>G	ENSP00000452033.2:p.Lys1266=
ENST00000696641.1:c.3846A>G	ENSP00000512774.1:p.Lys1282=
ENST00000696642.1:c.*2816A>G	ENSP00000512775.1:n.*2816A>G
ENST00000696646.1:c.*2816A>G	ENSP00000512777.1:n.*2816A>G
ENST00000696647.1:c.4005A>G	ENSP00000512778.1:p.Lys1335=
ENST00000696648.1:c.*2030A>G	ENSP00000512779.1:n.*2030A>G
ENST00000696649.1:c.3849A>G	ENSP00000512780.1:p.Lys1283=
ENST00000696650.1:n.3953A>G
ENST00000696659.1:c.2003A>G
ENST00000696663.1:c.2822A>G
ENST00000696664.1:c.2822A>G
ENST00000696675.1:c.4005A>G	ENSP00000512799.1:p.Lys1335=
ENST00000696683.1:c.2822A>G
ENST00000696684.1:c.2822A>G
ENST00000696685.1:c.2822A>G
XM_011537034.1:c.4005A>G	XP_011535336.1:p.Lys1335=
XM_011537034.2:c.4005A>G	XP_011535336.1:p.Lys1335=
XM_011537035.1:c.3927A>G	XP_011535337.1:p.Lys1309=
XM_011537035.3:c.3927A>G	XP_011535337.1:p.Lys1309=
XM_011537036.1:c.4005A>G	XP_011535338.1:p.Lys1335=
XM_011537037.1:c.2019A>G	XP_011535339.1:p.Lys673=
XM_011537037.3:c.2019A>G	XP_011535339.1:p.Lys673=
XM_017021523.1:c.4005A>G	XP_016877012.1:p.Lys1335=
XM_017021524.2:c.3042A>G	XP_016877013.1:p.Lys1014=
XM_017021525.2:c.2820A>G	XP_016877014.1:p.Lys940=
XM_017021526.2:c.2820A>G	XP_016877015.1:p.Lys940=
XM_017021527.1:c.2820A>G	XP_016877016.1:p.Lys940=
XR_001750470.1:n.4097A>G
XR_001750471.2:n.4097A>G
XR_001750472.1:n.4097A>G