Canonical Allele Identifier: CA389608244

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654500T>G (hg19) ; chr14:g.45185297T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185297T>G , CM000676.2:g.45185297T>G	GRCh38
NC_000014.8:g.45654500T>G , CM000676.1:g.45654500T>G	GRCh37
NC_000014.7:g.44724250T>G	NCBI36
NG_007417.1:g.54365T>G , LRG_502:g.54365T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2808T>G	ENSP00000450632.2:p.Asp936Glu
ENST00000555484.2:c.374T>G
ENST00000556250.6:c.4389T>G	ENSP00000452033.2:p.Asp1463Glu
ENST00000557110.2:c.374T>G
ENST00000696642.1:c.*3407T>G	ENSP00000512775.1:n.*3407T>G
ENST00000696644.1:n.332T>G
ENST00000696645.1:n.486T>G
ENST00000696647.1:c.4596T>G	ENSP00000512778.1:p.Asp1532Glu
ENST00000696648.1:c.*2621T>G	ENSP00000512779.1:n.*2621T>G
ENST00000696649.1:c.4440T>G	ENSP00000512780.1:p.Asp1480Glu
ENST00000696650.1:n.4544T>G
ENST00000696659.1:c.2594T>G
ENST00000696663.1:c.3527T>G
ENST00000696664.1:c.3428T>G
ENST00000696665.1:c.374T>G
ENST00000696675.1:c.*352T>G	ENSP00000512799.1:n.*352T>G
ENST00000696683.1:c.3413T>G
ENST00000696684.1:c.3413T>G
ENST00000696685.1:c.3413T>G
ENST00000696686.1:n.1333T>G
ENST00000267430.10:c.4596T>G MANE Select	ENSP00000267430.5:p.Asp1532Glu
ENST00000267430.9:c.4596T>G	ENSP00000267430.5:p.Asp1532Glu
ENST00000542564.6:c.4518T>G	ENSP00000442493.2:p.Asp1506Glu
ENST00000554809.5:c.1393T>G
ENST00000555013.1:n.429T>G
ENST00000556250.5:c.3144T>G	ENSP00000452033.1:p.Asp1048Glu
NM_001308133.1:c.4518T>G	NP_001295062.1:p.Asp1506Glu
NM_020937.2:c.4596T>G , LRG_502t1:c.4596T>G	NP_065988.1:p.Asp1532Glu
NM_020937.3:c.4596T>G	NP_065988.1:p.Asp1532Glu
XM_011537034.1:c.4611T>G	XP_011535336.1:p.Asp1537Glu
XM_011537035.1:c.4533T>G	XP_011535337.1:p.Asp1511Glu
XM_011537036.1:c.4611T>G	XP_011535338.1:p.Asp1537Glu
XM_011537037.1:c.2625T>G	XP_011535339.1:p.Asp875Glu
XM_011537034.2:c.4611T>G	XP_011535336.1:p.Asp1537Glu
XM_011537035.3:c.4533T>G	XP_011535337.1:p.Asp1511Glu
XM_011537037.3:c.2625T>G	XP_011535339.1:p.Asp875Glu
XM_017021523.1:c.4611T>G	XP_016877012.1:p.Asp1537Glu
XM_017021524.2:c.3648T>G	XP_016877013.1:p.Asp1216Glu
XM_017021525.2:c.3426T>G	XP_016877014.1:p.Asp1142Glu
XM_017021526.2:c.3426T>G	XP_016877015.1:p.Asp1142Glu
XM_017021527.1:c.3411T>G	XP_016877016.1:p.Asp1137Glu
XR_001750470.1:n.4703T>G
XR_001750471.2:n.4688T>G
XR_001750472.1:n.4740T>G
NM_020937.4:c.4596T>G MANE Select	NP_065988.1:p.Asp1532Glu
NM_001308133.2:c.4518T>G	NP_001295062.1:p.Asp1506Glu