Canonical Allele Identifier: CA389613156

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45189291C>T , CM000676.2:g.45189291C>T	GRCh38
NC_000014.8:g.45658494C>T , CM000676.1:g.45658494C>T	GRCh37
NC_000014.7:g.44728244C>T	NCBI36
NG_007417.1:g.58359C>T , LRG_502:g.58359C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5269C>T MANE Select	NP_065988.1:p.Gln1757Ter
ENST00000267430.10:c.5269C>T MANE Select	ENSP00000267430.5:p.Gln1757Ter
NM_001308133.1:c.5191C>T	NP_001295062.1:p.Gln1731Ter
NM_001308133.2:c.5191C>T	NP_001295062.1:p.Gln1731Ter
NM_020937.2:c.5269C>T , LRG_502t1:c.5269C>T	NP_065988.1:p.Gln1757Ter
NM_020937.3:c.5269C>T	NP_065988.1:p.Gln1757Ter
ENST00000267430.9:c.5269C>T	ENSP00000267430.5:p.Gln1757Ter
ENST00000542564.6:c.5191C>T	ENSP00000442493.2:p.Gln1731Ter
ENST00000554809.5:c.2066C>T
ENST00000554809.6:c.3481C>T	ENSP00000450632.2:p.Gln1161Ter
ENST00000555484.2:c.1047C>T
ENST00000556250.5:c.3817C>T	ENSP00000452033.1:p.Gln1273Ter
ENST00000556250.6:c.5062C>T	ENSP00000452033.2:p.Gln1688Ter
ENST00000557110.2:c.1047C>T
ENST00000696642.1:c.*4080C>T	ENSP00000512775.1:n.*4080C>T
ENST00000696645.1:n.1159C>T
ENST00000696647.1:c.5269C>T	ENSP00000512778.1:p.Gln1757Ter
ENST00000696648.1:c.*3294C>T	ENSP00000512779.1:n.*3294C>T
ENST00000696649.1:c.5113C>T	ENSP00000512780.1:p.Gln1705Ter
ENST00000696650.1:n.5217C>T
ENST00000696659.1:c.3267C>T
ENST00000696663.1:c.4200C>T
ENST00000696664.1:c.4101C>T
ENST00000696665.1:c.1047C>T
ENST00000696675.1:c.*1025C>T	ENSP00000512799.1:n.*1025C>T
ENST00000696683.1:c.3968+118C>T
ENST00000696684.1:c.4086C>T
ENST00000696685.1:c.4086C>T
ENST00000696686.1:n.2006C>T
XM_011537034.1:c.5284C>T	XP_011535336.1:p.Gln1762Ter
XM_011537034.2:c.5284C>T	XP_011535336.1:p.Gln1762Ter
XM_011537035.1:c.5206C>T	XP_011535337.1:p.Gln1736Ter
XM_011537035.3:c.5206C>T	XP_011535337.1:p.Gln1736Ter
XM_011537036.1:c.5284C>T	XP_011535338.1:p.Gln1762Ter
XM_011537037.1:c.3298C>T	XP_011535339.1:p.Gln1100Ter
XM_011537037.3:c.3298C>T	XP_011535339.1:p.Gln1100Ter
XM_017021523.1:c.5284C>T	XP_016877012.1:p.Gln1762Ter
XM_017021524.2:c.4321C>T	XP_016877013.1:p.Gln1441Ter
XM_017021525.2:c.4099C>T	XP_016877014.1:p.Gln1367Ter
XM_017021526.2:c.4099C>T	XP_016877015.1:p.Gln1367Ter
XM_017021527.1:c.4084C>T	XP_016877016.1:p.Gln1362Ter
XR_001750470.1:n.5376C>T
XR_001750471.2:n.5361C>T