Canonical Allele Identifier: CA7169811

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185338T>G , CM000676.2:g.45185338T>G	GRCh38
NC_000014.8:g.45654541T>G , CM000676.1:g.45654541T>G	GRCh37
NC_000014.7:g.44724291T>G	NCBI36
NG_007417.1:g.54406T>G , LRG_502:g.54406T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.4637T>G MANE Select	NP_065988.1:p.Leu1546Ter
ENST00000267430.10:c.4637T>G MANE Select	ENSP00000267430.5:p.Leu1546Ter
NM_001308133.1:c.4559T>G	NP_001295062.1:p.Leu1520Ter
NM_001308133.2:c.4559T>G	NP_001295062.1:p.Leu1520Ter
NM_020937.2:c.4637T>G , LRG_502t1:c.4637T>G	NP_065988.1:p.Leu1546Ter
NM_020937.3:c.4637T>G	NP_065988.1:p.Leu1546Ter
ENST00000267430.9:c.4637T>G	ENSP00000267430.5:p.Leu1546Ter
ENST00000542564.6:c.4559T>G	ENSP00000442493.2:p.Leu1520Ter
ENST00000554809.5:c.1434T>G
ENST00000554809.6:c.2849T>G	ENSP00000450632.2:p.Leu950Ter
ENST00000555013.1:n.470T>G
ENST00000555484.2:c.415T>G
ENST00000556250.5:c.3185T>G	ENSP00000452033.1:p.Leu1062Ter
ENST00000556250.6:c.4430T>G	ENSP00000452033.2:p.Leu1477Ter
ENST00000557110.2:c.415T>G
ENST00000696642.1:c.*3448T>G	ENSP00000512775.1:n.*3448T>G
ENST00000696644.1:n.373T>G
ENST00000696645.1:n.527T>G
ENST00000696647.1:c.4637T>G	ENSP00000512778.1:p.Leu1546Ter
ENST00000696648.1:c.*2662T>G	ENSP00000512779.1:n.*2662T>G
ENST00000696649.1:c.4481T>G	ENSP00000512780.1:p.Leu1494Ter
ENST00000696650.1:n.4585T>G
ENST00000696659.1:c.2635T>G
ENST00000696663.1:c.3568T>G
ENST00000696664.1:c.3469T>G
ENST00000696665.1:c.415T>G
ENST00000696675.1:c.*393T>G	ENSP00000512799.1:n.*393T>G
ENST00000696683.1:c.3454T>G
ENST00000696684.1:c.3454T>G
ENST00000696685.1:c.3454T>G
ENST00000696686.1:n.1374T>G
XM_011537034.1:c.4652T>G	XP_011535336.1:p.Leu1551Ter
XM_011537034.2:c.4652T>G	XP_011535336.1:p.Leu1551Ter
XM_011537035.1:c.4574T>G	XP_011535337.1:p.Leu1525Ter
XM_011537035.3:c.4574T>G	XP_011535337.1:p.Leu1525Ter
XM_011537036.1:c.4652T>G	XP_011535338.1:p.Leu1551Ter
XM_011537037.1:c.2666T>G	XP_011535339.1:p.Leu889Ter
XM_011537037.3:c.2666T>G	XP_011535339.1:p.Leu889Ter
XM_017021523.1:c.4652T>G	XP_016877012.1:p.Leu1551Ter
XM_017021524.2:c.3689T>G	XP_016877013.1:p.Leu1230Ter
XM_017021525.2:c.3467T>G	XP_016877014.1:p.Leu1156Ter
XM_017021526.2:c.3467T>G	XP_016877015.1:p.Leu1156Ter
XM_017021527.1:c.3452T>G	XP_016877016.1:p.Leu1151Ter
XR_001750470.1:n.4744T>G
XR_001750471.2:n.4729T>G
XR_001750472.1:n.4781T>G