Canonical Allele Identifier: CA389608171

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654467A>T (hg19) ; chr14:g.45185264A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185264A>T , CM000676.2:g.45185264A>T	GRCh38
NC_000014.8:g.45654467A>T , CM000676.1:g.45654467A>T	GRCh37
NC_000014.7:g.44724217A>T	NCBI36
NG_007417.1:g.54332A>T , LRG_502:g.54332A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2775A>T	ENSP00000450632.2:p.Glu925Asp
ENST00000555484.2:c.341A>T
ENST00000556250.6:c.4356A>T	ENSP00000452033.2:p.Glu1452Asp
ENST00000557110.2:c.341A>T
ENST00000696642.1:c.*3374A>T	ENSP00000512775.1:n.*3374A>T
ENST00000696644.1:n.299A>T
ENST00000696645.1:n.453A>T
ENST00000696647.1:c.4563A>T	ENSP00000512778.1:p.Glu1521Asp
ENST00000696648.1:c.*2588A>T	ENSP00000512779.1:n.*2588A>T
ENST00000696649.1:c.4407A>T	ENSP00000512780.1:p.Glu1469Asp
ENST00000696650.1:n.4511A>T
ENST00000696659.1:c.2561A>T
ENST00000696663.1:c.3494A>T
ENST00000696664.1:c.3395A>T
ENST00000696665.1:c.341A>T
ENST00000696675.1:c.*319A>T	ENSP00000512799.1:n.*319A>T
ENST00000696683.1:c.3380A>T
ENST00000696684.1:c.3380A>T
ENST00000696685.1:c.3380A>T
ENST00000696686.1:n.1300A>T
ENST00000267430.10:c.4563A>T MANE Select	ENSP00000267430.5:p.Glu1521Asp
ENST00000267430.9:c.4563A>T	ENSP00000267430.5:p.Glu1521Asp
ENST00000542564.6:c.4485A>T	ENSP00000442493.2:p.Glu1495Asp
ENST00000554809.5:c.1360A>T
ENST00000555013.1:n.396A>T
ENST00000556250.5:c.3111A>T	ENSP00000452033.1:p.Glu1037Asp
NM_001308133.1:c.4485A>T	NP_001295062.1:p.Glu1495Asp
NM_020937.2:c.4563A>T , LRG_502t1:c.4563A>T	NP_065988.1:p.Glu1521Asp
NM_020937.3:c.4563A>T	NP_065988.1:p.Glu1521Asp
XM_011537034.1:c.4578A>T	XP_011535336.1:p.Glu1526Asp
XM_011537035.1:c.4500A>T	XP_011535337.1:p.Glu1500Asp
XM_011537036.1:c.4578A>T	XP_011535338.1:p.Glu1526Asp
XM_011537037.1:c.2592A>T	XP_011535339.1:p.Glu864Asp
XM_011537034.2:c.4578A>T	XP_011535336.1:p.Glu1526Asp
XM_011537035.3:c.4500A>T	XP_011535337.1:p.Glu1500Asp
XM_011537037.3:c.2592A>T	XP_011535339.1:p.Glu864Asp
XM_017021523.1:c.4578A>T	XP_016877012.1:p.Glu1526Asp
XM_017021524.2:c.3615A>T	XP_016877013.1:p.Glu1205Asp
XM_017021525.2:c.3393A>T	XP_016877014.1:p.Glu1131Asp
XM_017021526.2:c.3393A>T	XP_016877015.1:p.Glu1131Asp
XM_017021527.1:c.3378A>T	XP_016877016.1:p.Glu1126Asp
XR_001750470.1:n.4670A>T
XR_001750471.2:n.4655A>T
XR_001750472.1:n.4707A>T
NM_020937.4:c.4563A>T MANE Select	NP_065988.1:p.Glu1521Asp
NM_001308133.2:c.4485A>T	NP_001295062.1:p.Glu1495Asp