Canonical Allele Identifier: CA389608040

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654430G>C (hg19) ; chr14:g.45185227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185227G>C , CM000676.2:g.45185227G>C	GRCh38
NC_000014.8:g.45654430G>C , CM000676.1:g.45654430G>C	GRCh37
NC_000014.7:g.44724180G>C	NCBI36
NG_007417.1:g.54295G>C , LRG_502:g.54295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2738G>C	ENSP00000450632.2:p.Arg913Thr
ENST00000555484.2:c.304G>C
ENST00000556250.6:c.4319G>C	ENSP00000452033.2:p.Arg1440Thr
ENST00000557110.2:c.304G>C
ENST00000696642.1:c.*3337G>C	ENSP00000512775.1:n.*3337G>C
ENST00000696644.1:n.262G>C
ENST00000696645.1:n.416G>C
ENST00000696647.1:c.4526G>C	ENSP00000512778.1:p.Arg1509Thr
ENST00000696648.1:c.*2551G>C	ENSP00000512779.1:n.*2551G>C
ENST00000696649.1:c.4370G>C	ENSP00000512780.1:p.Arg1457Thr
ENST00000696650.1:n.4474G>C
ENST00000696659.1:c.2524G>C
ENST00000696663.1:c.3457G>C
ENST00000696664.1:c.3358G>C
ENST00000696665.1:c.304G>C
ENST00000696675.1:c.*282G>C	ENSP00000512799.1:n.*282G>C
ENST00000696683.1:c.3343G>C
ENST00000696684.1:c.3343G>C
ENST00000696685.1:c.3343G>C
ENST00000696686.1:n.1263G>C
ENST00000267430.10:c.4526G>C MANE Select	ENSP00000267430.5:p.Arg1509Thr
ENST00000267430.9:c.4526G>C	ENSP00000267430.5:p.Arg1509Thr
ENST00000542564.6:c.4448G>C	ENSP00000442493.2:p.Arg1483Thr
ENST00000554809.5:c.1323G>C
ENST00000555013.1:n.359G>C
ENST00000556250.5:c.3074G>C	ENSP00000452033.1:p.Arg1025Thr
NM_001308133.1:c.4448G>C	NP_001295062.1:p.Arg1483Thr
NM_020937.2:c.4526G>C , LRG_502t1:c.4526G>C	NP_065988.1:p.Arg1509Thr
NM_020937.3:c.4526G>C	NP_065988.1:p.Arg1509Thr
XM_011537034.1:c.4541G>C	XP_011535336.1:p.Arg1514Thr
XM_011537035.1:c.4463G>C	XP_011535337.1:p.Arg1488Thr
XM_011537036.1:c.4541G>C	XP_011535338.1:p.Arg1514Thr
XM_011537037.1:c.2555G>C	XP_011535339.1:p.Arg852Thr
XM_011537034.2:c.4541G>C	XP_011535336.1:p.Arg1514Thr
XM_011537035.3:c.4463G>C	XP_011535337.1:p.Arg1488Thr
XM_011537037.3:c.2555G>C	XP_011535339.1:p.Arg852Thr
XM_017021523.1:c.4541G>C	XP_016877012.1:p.Arg1514Thr
XM_017021524.2:c.3578G>C	XP_016877013.1:p.Arg1193Thr
XM_017021525.2:c.3356G>C	XP_016877014.1:p.Arg1119Thr
XM_017021526.2:c.3356G>C	XP_016877015.1:p.Arg1119Thr
XM_017021527.1:c.3341G>C	XP_016877016.1:p.Arg1114Thr
XR_001750470.1:n.4633G>C
XR_001750471.2:n.4618G>C
XR_001750472.1:n.4670G>C
NM_020937.4:c.4526G>C MANE Select	NP_065988.1:p.Arg1509Thr
NM_001308133.2:c.4448G>C	NP_001295062.1:p.Arg1483Thr