Canonical Allele Identifier: CA389608140

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654453G>C (hg19) ; chr14:g.45185250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185250G>C , CM000676.2:g.45185250G>C	GRCh38
NC_000014.8:g.45654453G>C , CM000676.1:g.45654453G>C	GRCh37
NC_000014.7:g.44724203G>C	NCBI36
NG_007417.1:g.54318G>C , LRG_502:g.54318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2761G>C	ENSP00000450632.2:p.Glu921Gln
ENST00000555484.2:c.327G>C
ENST00000556250.6:c.4342G>C	ENSP00000452033.2:p.Glu1448Gln
ENST00000557110.2:c.327G>C
ENST00000696642.1:c.*3360G>C	ENSP00000512775.1:n.*3360G>C
ENST00000696644.1:n.285G>C
ENST00000696645.1:n.439G>C
ENST00000696647.1:c.4549G>C	ENSP00000512778.1:p.Glu1517Gln
ENST00000696648.1:c.*2574G>C	ENSP00000512779.1:n.*2574G>C
ENST00000696649.1:c.4393G>C	ENSP00000512780.1:p.Glu1465Gln
ENST00000696650.1:n.4497G>C
ENST00000696659.1:c.2547G>C
ENST00000696663.1:c.3480G>C
ENST00000696664.1:c.3381G>C
ENST00000696665.1:c.327G>C
ENST00000696675.1:c.*305G>C	ENSP00000512799.1:n.*305G>C
ENST00000696683.1:c.3366G>C
ENST00000696684.1:c.3366G>C
ENST00000696685.1:c.3366G>C
ENST00000696686.1:n.1286G>C
ENST00000267430.10:c.4549G>C MANE Select	ENSP00000267430.5:p.Glu1517Gln
ENST00000267430.9:c.4549G>C	ENSP00000267430.5:p.Glu1517Gln
ENST00000542564.6:c.4471G>C	ENSP00000442493.2:p.Glu1491Gln
ENST00000554809.5:c.1346G>C
ENST00000555013.1:n.382G>C
ENST00000556250.5:c.3097G>C	ENSP00000452033.1:p.Glu1033Gln
NM_001308133.1:c.4471G>C	NP_001295062.1:p.Glu1491Gln
NM_020937.2:c.4549G>C , LRG_502t1:c.4549G>C	NP_065988.1:p.Glu1517Gln
NM_020937.3:c.4549G>C	NP_065988.1:p.Glu1517Gln
XM_011537034.1:c.4564G>C	XP_011535336.1:p.Glu1522Gln
XM_011537035.1:c.4486G>C	XP_011535337.1:p.Glu1496Gln
XM_011537036.1:c.4564G>C	XP_011535338.1:p.Glu1522Gln
XM_011537037.1:c.2578G>C	XP_011535339.1:p.Glu860Gln
XM_011537034.2:c.4564G>C	XP_011535336.1:p.Glu1522Gln
XM_011537035.3:c.4486G>C	XP_011535337.1:p.Glu1496Gln
XM_011537037.3:c.2578G>C	XP_011535339.1:p.Glu860Gln
XM_017021523.1:c.4564G>C	XP_016877012.1:p.Glu1522Gln
XM_017021524.2:c.3601G>C	XP_016877013.1:p.Glu1201Gln
XM_017021525.2:c.3379G>C	XP_016877014.1:p.Glu1127Gln
XM_017021526.2:c.3379G>C	XP_016877015.1:p.Glu1127Gln
XM_017021527.1:c.3364G>C	XP_016877016.1:p.Glu1122Gln
XR_001750470.1:n.4656G>C
XR_001750471.2:n.4641G>C
XR_001750472.1:n.4693G>C
NM_020937.4:c.4549G>C MANE Select	NP_065988.1:p.Glu1517Gln
NM_001308133.2:c.4471G>C	NP_001295062.1:p.Glu1491Gln