Canonical Allele Identifier: CA389613392

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45189364T>C , CM000676.2:g.45189364T>C	GRCh38
NC_000014.8:g.45658567T>C , CM000676.1:g.45658567T>C	GRCh37
NC_000014.7:g.44728317T>C	NCBI36
NG_007417.1:g.58432T>C , LRG_502:g.58432T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5340+2T>C MANE Select	NP_065988.1:n.5340+2T>C
ENST00000267430.10:c.5340+2T>C MANE Select	ENSP00000267430.5:n.5340+2T>C
NM_001308133.1:c.5262+2T>C	NP_001295062.1:n.5262+2T>C
NM_001308133.2:c.5262+2T>C	NP_001295062.1:n.5262+2T>C
NM_020937.2:c.5340+2T>C , LRG_502t1:c.5340+2T>C	NP_065988.1:n.5340+2T>C
NM_020937.3:c.5340+2T>C	NP_065988.1:n.5340+2T>C
ENST00000267430.9:c.5340+2T>C	ENSP00000267430.5:n.5340+2T>C
ENST00000542564.6:c.5262+2T>C	ENSP00000442493.2:n.5262+2T>C
ENST00000554809.5:c.2137+2T>C
ENST00000554809.6:c.3552+2T>C	ENSP00000450632.2:n.3552+2T>C
ENST00000555484.2:c.1118+2T>C
ENST00000556250.5:c.3888+2T>C	ENSP00000452033.1:n.3888+2T>C
ENST00000556250.6:c.5133+2T>C	ENSP00000452033.2:n.5133+2T>C
ENST00000557110.2:c.1118+2T>C
ENST00000696645.1:n.1230+2T>C
ENST00000696647.1:c.5340+2T>C	ENSP00000512778.1:n.5340+2T>C
ENST00000696648.1:c.*3365+2T>C	ENSP00000512779.1:n.*3365+2T>C
ENST00000696649.1:c.5184+2T>C	ENSP00000512780.1:n.5184+2T>C
ENST00000696650.1:n.5290T>C
ENST00000696659.1:c.3338+2T>C
ENST00000696663.1:c.4271+2T>C
ENST00000696664.1:c.4172+2T>C
ENST00000696665.1:c.1118+2T>C
ENST00000696675.1:c.*1096+2T>C	ENSP00000512799.1:n.*1096+2T>C
ENST00000696683.1:c.3968+191T>C
ENST00000696684.1:c.4157+2T>C
ENST00000696685.1:c.4157+2T>C
ENST00000696686.1:n.2077+2T>C
XM_011537034.1:c.5355+2T>C	XP_011535336.1:n.5355+2T>C
XM_011537034.2:c.5355+2T>C	XP_011535336.1:n.5355+2T>C
XM_011537035.1:c.5277+2T>C	XP_011535337.1:n.5277+2T>C
XM_011537035.3:c.5277+2T>C	XP_011535337.1:n.5277+2T>C
XM_011537036.1:c.5355+2T>C	XP_011535338.1:n.5355+2T>C
XM_011537037.1:c.3369+2T>C	XP_011535339.1:n.3369+2T>C
XM_011537037.3:c.3369+2T>C	XP_011535339.1:n.3369+2T>C
XM_017021523.1:c.5355+2T>C	XP_016877012.1:n.5355+2T>C
XM_017021524.2:c.4392+2T>C	XP_016877013.1:n.4392+2T>C
XM_017021525.2:c.4170+2T>C	XP_016877014.1:n.4170+2T>C
XM_017021526.2:c.4170+2T>C	XP_016877015.1:n.4170+2T>C
XM_017021527.1:c.4155+2T>C	XP_016877016.1:n.4155+2T>C
XR_001750470.1:n.5447+2T>C
XR_001750471.2:n.5432+2T>C