Canonical Allele Identifier: CA389586972

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45198758T>A , CM000676.2:g.45198758T>A	GRCh38
NC_000014.8:g.45667961T>A , CM000676.1:g.45667961T>A	GRCh37
NC_000014.7:g.44737711T>A	NCBI36
NG_007417.1:g.67826T>A , LRG_502:g.67826T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5831T>A MANE Select	NP_065988.1:p.Leu1944Ter
ENST00000267430.10:c.5831T>A MANE Select	ENSP00000267430.5:p.Leu1944Ter
NM_001308133.1:c.5753T>A	NP_001295062.1:p.Leu1918Ter
NM_001308133.2:c.5753T>A	NP_001295062.1:p.Leu1918Ter
NM_020937.2:c.5831T>A , LRG_502t1:c.5831T>A	NP_065988.1:p.Leu1944Ter
NM_020937.3:c.5831T>A	NP_065988.1:p.Leu1944Ter
ENST00000267430.9:c.5831T>A	ENSP00000267430.5:p.Leu1944Ter
ENST00000542564.6:c.5753T>A	ENSP00000442493.2:p.Leu1918Ter
ENST00000553551.1:n.324T>A
ENST00000553551.2:n.2031T>A
ENST00000554809.5:c.2733T>A
ENST00000554809.6:c.4148T>A	ENSP00000450632.2:p.Leu1383Ter
ENST00000555484.1:c.209T>A	ENSP00000450797.1:p.Leu70Ter
ENST00000555484.2:c.1609T>A
ENST00000556250.5:c.4379T>A	ENSP00000452033.1:p.Leu1460Ter
ENST00000556250.6:c.5624T>A	ENSP00000452033.2:p.Leu1875Ter
ENST00000557110.1:c.403T>A	ENSP00000451846.1:p.Cys135Ser
ENST00000557110.2:c.1521T>A
ENST00000696645.1:n.1721T>A
ENST00000696647.1:c.*64T>A	ENSP00000512778.1:n.*64T>A
ENST00000696648.1:c.*3856T>A	ENSP00000512779.1:n.*3856T>A
ENST00000696649.1:c.5675T>A	ENSP00000512780.1:p.Leu1892Ter
ENST00000696651.1:n.2271T>A
ENST00000696659.1:c.3453T>A
ENST00000696663.1:c.4762T>A
ENST00000696664.1:c.4663T>A
ENST00000696665.1:c.1495-1112T>A
ENST00000696675.1:c.*1587T>A	ENSP00000512799.1:n.*1587T>A
ENST00000696683.1:c.4459T>A
ENST00000696684.1:c.4158-1112T>A
ENST00000696685.1:c.4649T>A
ENST00000696686.1:n.2568T>A
XM_011537034.1:c.5846T>A	XP_011535336.1:p.Leu1949Ter
XM_011537034.2:c.5846T>A	XP_011535336.1:p.Leu1949Ter
XM_011537035.1:c.5768T>A	XP_011535337.1:p.Leu1923Ter
XM_011537035.3:c.5768T>A	XP_011535337.1:p.Leu1923Ter
XM_011537036.1:c.*64T>A	XP_011535338.1:n.*64T>A
XM_011537037.1:c.3860T>A	XP_011535339.1:p.Leu1287Ter
XM_011537037.3:c.3860T>A	XP_011535339.1:p.Leu1287Ter
XM_017021523.1:c.5356-1112T>A	XP_016877012.1:n.5356-1112T>A
XM_017021524.2:c.4883T>A	XP_016877013.1:p.Leu1628Ter
XM_017021525.2:c.4661T>A	XP_016877014.1:p.Leu1554Ter
XM_017021526.2:c.4661T>A	XP_016877015.1:p.Leu1554Ter
XM_017021527.1:c.4646T>A	XP_016877016.1:p.Leu1549Ter
XR_001750470.1:n.5562T>A
XR_001750471.2:n.5547T>A