Canonical Allele Identifier: CA7170077

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45198759G>T , CM000676.2:g.45198759G>T	GRCh38
NC_000014.8:g.45667962G>T , CM000676.1:g.45667962G>T	GRCh37
NC_000014.7:g.44737712G>T	NCBI36
NG_007417.1:g.67827G>T , LRG_502:g.67827G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5832G>T MANE Select	NP_065988.1:p.Leu1944Phe
ENST00000267430.10:c.5832G>T MANE Select	ENSP00000267430.5:p.Leu1944Phe
NM_001308133.1:c.5754G>T	NP_001295062.1:p.Leu1918Phe
NM_001308133.2:c.5754G>T	NP_001295062.1:p.Leu1918Phe
NM_020937.2:c.5832G>T , LRG_502t1:c.5832G>T	NP_065988.1:p.Leu1944Phe
NM_020937.3:c.5832G>T	NP_065988.1:p.Leu1944Phe
ENST00000267430.9:c.5832G>T	ENSP00000267430.5:p.Leu1944Phe
ENST00000542564.6:c.5754G>T	ENSP00000442493.2:p.Leu1918Phe
ENST00000553551.1:n.325G>T
ENST00000553551.2:n.2032G>T
ENST00000554809.5:c.2734G>T
ENST00000554809.6:c.4149G>T	ENSP00000450632.2:p.Leu1383Phe
ENST00000555484.1:c.210G>T	ENSP00000450797.1:p.Leu70Phe
ENST00000555484.2:c.1610G>T
ENST00000556250.5:c.4380G>T	ENSP00000452033.1:p.Leu1460Phe
ENST00000556250.6:c.5625G>T	ENSP00000452033.2:p.Leu1875Phe
ENST00000557110.1:c.404G>T	ENSP00000451846.1:p.Cys135Phe
ENST00000557110.2:c.1522G>T
ENST00000696645.1:n.1722G>T
ENST00000696647.1:c.*65G>T	ENSP00000512778.1:n.*65G>T
ENST00000696648.1:c.*3857G>T	ENSP00000512779.1:n.*3857G>T
ENST00000696649.1:c.5676G>T	ENSP00000512780.1:p.Leu1892Phe
ENST00000696651.1:n.2272G>T
ENST00000696659.1:c.3454G>T
ENST00000696663.1:c.4763G>T
ENST00000696664.1:c.4664G>T
ENST00000696665.1:c.1495-1111G>T
ENST00000696675.1:c.*1588G>T	ENSP00000512799.1:n.*1588G>T
ENST00000696683.1:c.4460G>T
ENST00000696684.1:c.4158-1111G>T
ENST00000696685.1:c.4650G>T
ENST00000696686.1:n.2569G>T
XM_011537034.1:c.5847G>T	XP_011535336.1:p.Leu1949Phe
XM_011537034.2:c.5847G>T	XP_011535336.1:p.Leu1949Phe
XM_011537035.1:c.5769G>T	XP_011535337.1:p.Leu1923Phe
XM_011537035.3:c.5769G>T	XP_011535337.1:p.Leu1923Phe
XM_011537036.1:c.*65G>T	XP_011535338.1:n.*65G>T
XM_011537037.1:c.3861G>T	XP_011535339.1:p.Leu1287Phe
XM_011537037.3:c.3861G>T	XP_011535339.1:p.Leu1287Phe
XM_017021523.1:c.5356-1111G>T	XP_016877012.1:n.5356-1111G>T
XM_017021524.2:c.4884G>T	XP_016877013.1:p.Leu1628Phe
XM_017021525.2:c.4662G>T	XP_016877014.1:p.Leu1554Phe
XM_017021526.2:c.4662G>T	XP_016877015.1:p.Leu1554Phe
XM_017021527.1:c.4647G>T	XP_016877016.1:p.Leu1549Phe
XR_001750470.1:n.5563G>T
XR_001750471.2:n.5548G>T