Canonical Allele Identifier: CA389600799

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45176035T>G , CM000676.2:g.45176035T>G	GRCh38
NC_000014.8:g.45645238T>G , CM000676.1:g.45645238T>G	GRCh37
NC_000014.7:g.44714988T>G	NCBI36
NG_007417.1:g.45103T>G , LRG_502:g.45103T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.3281T>G MANE Select	NP_065988.1:p.Leu1094Ter
ENST00000267430.10:c.3281T>G MANE Select	ENSP00000267430.5:p.Leu1094Ter
NM_001308133.1:c.3203T>G	NP_001295062.1:p.Leu1068Ter
NM_001308133.2:c.3203T>G	NP_001295062.1:p.Leu1068Ter
NM_020937.2:c.3281T>G , LRG_502t1:c.3281T>G	NP_065988.1:p.Leu1094Ter
NM_020937.3:c.3281T>G	NP_065988.1:p.Leu1094Ter
ENST00000267430.9:c.3281T>G	ENSP00000267430.5:p.Leu1094Ter
ENST00000542564.6:c.3203T>G	ENSP00000442493.2:p.Leu1068Ter
ENST00000554809.5:c.78T>G
ENST00000554809.6:c.1493T>G	ENSP00000450632.2:p.Leu498Ter
ENST00000556250.5:c.1829T>G	ENSP00000452033.1:p.Leu610Ter
ENST00000556250.6:c.3074T>G	ENSP00000452033.2:p.Leu1025Ter
ENST00000696641.1:c.3122T>G	ENSP00000512774.1:p.Leu1041Ter
ENST00000696642.1:c.*2092T>G	ENSP00000512775.1:n.*2092T>G
ENST00000696646.1:c.*2092T>G	ENSP00000512777.1:n.*2092T>G
ENST00000696647.1:c.3281T>G	ENSP00000512778.1:p.Leu1094Ter
ENST00000696648.1:c.*1306T>G	ENSP00000512779.1:n.*1306T>G
ENST00000696649.1:c.3125T>G	ENSP00000512780.1:p.Leu1042Ter
ENST00000696650.1:n.3229T>G
ENST00000696659.1:c.1279T>G
ENST00000696663.1:c.2098T>G
ENST00000696664.1:c.2098T>G
ENST00000696675.1:c.3281T>G	ENSP00000512799.1:p.Leu1094Ter
ENST00000696683.1:c.2098T>G
ENST00000696684.1:c.2098T>G
ENST00000696685.1:c.2098T>G
XM_011537034.1:c.3281T>G	XP_011535336.1:p.Leu1094Ter
XM_011537034.2:c.3281T>G	XP_011535336.1:p.Leu1094Ter
XM_011537035.1:c.3203T>G	XP_011535337.1:p.Leu1068Ter
XM_011537035.3:c.3203T>G	XP_011535337.1:p.Leu1068Ter
XM_011537036.1:c.3281T>G	XP_011535338.1:p.Leu1094Ter
XM_011537037.1:c.1295T>G	XP_011535339.1:p.Leu432Ter
XM_011537037.3:c.1295T>G	XP_011535339.1:p.Leu432Ter
XM_017021523.1:c.3281T>G	XP_016877012.1:p.Leu1094Ter
XM_017021524.2:c.2318T>G	XP_016877013.1:p.Leu773Ter
XM_017021525.2:c.2096T>G	XP_016877014.1:p.Leu699Ter
XM_017021526.2:c.2096T>G	XP_016877015.1:p.Leu699Ter
XM_017021527.1:c.2096T>G	XP_016877016.1:p.Leu699Ter
XR_001750470.1:n.3373T>G
XR_001750471.2:n.3373T>G
XR_001750472.1:n.3373T>G