Canonical Allele Identifier: CA389586901
Community Standard Title: NM_020937.4(FANCM):c.5815G>C (p.Glu1939Gln)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45198742G>C , CM000676.2:g.45198742G>C GRCh38
NC_000014.8:g.45667945G>C , CM000676.1:g.45667945G>C GRCh37
NC_000014.7:g.44737695G>C NCBI36
NG_007417.1:g.67810G>C , LRG_502:g.67810G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.5815G>C MANE Select NP_065988.1:p.Glu1939Gln
ENST00000267430.10:c.5815G>C MANE Select ENSP00000267430.5:p.Glu1939Gln
NM_001308133.1:c.5737G>C NP_001295062.1:p.Glu1913Gln
NM_001308133.2:c.5737G>C NP_001295062.1:p.Glu1913Gln
NM_020937.2:c.5815G>C , LRG_502t1:c.5815G>C NP_065988.1:p.Glu1939Gln
NM_020937.3:c.5815G>C NP_065988.1:p.Glu1939Gln
ENST00000267430.9:c.5815G>C ENSP00000267430.5:p.Glu1939Gln
ENST00000542564.6:c.5737G>C ENSP00000442493.2:p.Glu1913Gln
ENST00000553551.1:n.308G>C
ENST00000553551.2:n.2015G>C
ENST00000554809.5:c.2717G>C
ENST00000554809.6:c.4132G>C ENSP00000450632.2:p.Glu1378Gln
ENST00000555484.1:c.193G>C ENSP00000450797.1:p.Glu65Gln
ENST00000555484.2:c.1593G>C
ENST00000556250.5:c.4363G>C ENSP00000452033.1:p.Glu1455Gln
ENST00000556250.6:c.5608G>C ENSP00000452033.2:p.Glu1870Gln
ENST00000557110.1:c.387G>C ENSP00000451846.1:p.Lys129Asn
ENST00000557110.2:c.1505G>C
ENST00000696645.1:n.1705G>C
ENST00000696647.1:c.*48G>C ENSP00000512778.1:n.*48G>C
ENST00000696648.1:c.*3840G>C ENSP00000512779.1:n.*3840G>C
ENST00000696649.1:c.5659G>C ENSP00000512780.1:p.Glu1887Gln
ENST00000696651.1:n.2255G>C
ENST00000696659.1:c.3437G>C
ENST00000696663.1:c.4746G>C
ENST00000696664.1:c.4647G>C
ENST00000696665.1:c.1495-1128G>C
ENST00000696675.1:c.*1571G>C ENSP00000512799.1:n.*1571G>C
ENST00000696683.1:c.4443G>C
ENST00000696684.1:c.4158-1128G>C
ENST00000696685.1:c.4633G>C
ENST00000696686.1:n.2552G>C
XM_011537034.1:c.5830G>C XP_011535336.1:p.Glu1944Gln
XM_011537034.2:c.5830G>C XP_011535336.1:p.Glu1944Gln
XM_011537035.1:c.5752G>C XP_011535337.1:p.Glu1918Gln
XM_011537035.3:c.5752G>C XP_011535337.1:p.Glu1918Gln
XM_011537036.1:c.*48G>C XP_011535338.1:n.*48G>C
XM_011537037.1:c.3844G>C XP_011535339.1:p.Glu1282Gln
XM_011537037.3:c.3844G>C XP_011535339.1:p.Glu1282Gln
XM_017021523.1:c.5356-1128G>C XP_016877012.1:n.5356-1128G>C
XM_017021524.2:c.4867G>C XP_016877013.1:p.Glu1623Gln
XM_017021525.2:c.4645G>C XP_016877014.1:p.Glu1549Gln
XM_017021526.2:c.4645G>C XP_016877015.1:p.Glu1549Gln
XM_017021527.1:c.4630G>C XP_016877016.1:p.Glu1544Gln
XR_001750470.1:n.5546G>C
XR_001750471.2:n.5531G>C