Canonical Allele Identifier: CA7169554

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45176435A>G , CM000676.2:g.45176435A>G	GRCh38
NC_000014.8:g.45645638A>G , CM000676.1:g.45645638A>G	GRCh37
NC_000014.7:g.44715388A>G	NCBI36
NG_007417.1:g.45503A>G , LRG_502:g.45503A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.3681A>G MANE Select	NP_065988.1:p.Leu1227=
ENST00000267430.10:c.3681A>G MANE Select	ENSP00000267430.5:p.Leu1227=
NM_001308133.1:c.3603A>G	NP_001295062.1:p.Leu1201=
NM_001308133.2:c.3603A>G	NP_001295062.1:p.Leu1201=
NM_020937.2:c.3681A>G , LRG_502t1:c.3681A>G	NP_065988.1:p.Leu1227=
NM_020937.3:c.3681A>G	NP_065988.1:p.Leu1227=
ENST00000267430.9:c.3681A>G	ENSP00000267430.5:p.Leu1227=
ENST00000542564.6:c.3603A>G	ENSP00000442493.2:p.Leu1201=
ENST00000554809.5:c.478A>G
ENST00000554809.6:c.1893A>G	ENSP00000450632.2:p.Leu631=
ENST00000556250.5:c.2229A>G	ENSP00000452033.1:p.Leu743=
ENST00000556250.6:c.3474A>G	ENSP00000452033.2:p.Leu1158=
ENST00000696641.1:c.3522A>G	ENSP00000512774.1:p.Leu1174=
ENST00000696642.1:c.*2492A>G	ENSP00000512775.1:n.*2492A>G
ENST00000696646.1:c.*2492A>G	ENSP00000512777.1:n.*2492A>G
ENST00000696647.1:c.3681A>G	ENSP00000512778.1:p.Leu1227=
ENST00000696648.1:c.*1706A>G	ENSP00000512779.1:n.*1706A>G
ENST00000696649.1:c.3525A>G	ENSP00000512780.1:p.Leu1175=
ENST00000696650.1:n.3629A>G
ENST00000696659.1:c.1679A>G
ENST00000696663.1:c.2498A>G
ENST00000696664.1:c.2498A>G
ENST00000696675.1:c.3681A>G	ENSP00000512799.1:p.Leu1227=
ENST00000696683.1:c.2498A>G
ENST00000696684.1:c.2498A>G
ENST00000696685.1:c.2498A>G
XM_011537034.1:c.3681A>G	XP_011535336.1:p.Leu1227=
XM_011537034.2:c.3681A>G	XP_011535336.1:p.Leu1227=
XM_011537035.1:c.3603A>G	XP_011535337.1:p.Leu1201=
XM_011537035.3:c.3603A>G	XP_011535337.1:p.Leu1201=
XM_011537036.1:c.3681A>G	XP_011535338.1:p.Leu1227=
XM_011537037.1:c.1695A>G	XP_011535339.1:p.Leu565=
XM_011537037.3:c.1695A>G	XP_011535339.1:p.Leu565=
XM_017021523.1:c.3681A>G	XP_016877012.1:p.Leu1227=
XM_017021524.2:c.2718A>G	XP_016877013.1:p.Leu906=
XM_017021525.2:c.2496A>G	XP_016877014.1:p.Leu832=
XM_017021526.2:c.2496A>G	XP_016877015.1:p.Leu832=
XM_017021527.1:c.2496A>G	XP_016877016.1:p.Leu832=
XR_001750470.1:n.3773A>G
XR_001750471.2:n.3773A>G
XR_001750472.1:n.3773A>G