Canonical Allele Identifier: CA389608073

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654438T>G (hg19) ; chr14:g.45185235T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185235T>G , CM000676.2:g.45185235T>G	GRCh38
NC_000014.8:g.45654438T>G , CM000676.1:g.45654438T>G	GRCh37
NC_000014.7:g.44724188T>G	NCBI36
NG_007417.1:g.54303T>G , LRG_502:g.54303T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2746T>G	ENSP00000450632.2:p.Leu916Val
ENST00000555484.2:c.312T>G
ENST00000556250.6:c.4327T>G	ENSP00000452033.2:p.Leu1443Val
ENST00000557110.2:c.312T>G
ENST00000696642.1:c.*3345T>G	ENSP00000512775.1:n.*3345T>G
ENST00000696644.1:n.270T>G
ENST00000696645.1:n.424T>G
ENST00000696647.1:c.4534T>G	ENSP00000512778.1:p.Leu1512Val
ENST00000696648.1:c.*2559T>G	ENSP00000512779.1:n.*2559T>G
ENST00000696649.1:c.4378T>G	ENSP00000512780.1:p.Leu1460Val
ENST00000696650.1:n.4482T>G
ENST00000696659.1:c.2532T>G
ENST00000696663.1:c.3465T>G
ENST00000696664.1:c.3366T>G
ENST00000696665.1:c.312T>G
ENST00000696675.1:c.*290T>G	ENSP00000512799.1:n.*290T>G
ENST00000696683.1:c.3351T>G
ENST00000696684.1:c.3351T>G
ENST00000696685.1:c.3351T>G
ENST00000696686.1:n.1271T>G
ENST00000267430.10:c.4534T>G MANE Select	ENSP00000267430.5:p.Leu1512Val
ENST00000267430.9:c.4534T>G	ENSP00000267430.5:p.Leu1512Val
ENST00000542564.6:c.4456T>G	ENSP00000442493.2:p.Leu1486Val
ENST00000554809.5:c.1331T>G
ENST00000555013.1:n.367T>G
ENST00000556250.5:c.3082T>G	ENSP00000452033.1:p.Leu1028Val
NM_001308133.1:c.4456T>G	NP_001295062.1:p.Leu1486Val
NM_020937.2:c.4534T>G , LRG_502t1:c.4534T>G	NP_065988.1:p.Leu1512Val
NM_020937.3:c.4534T>G	NP_065988.1:p.Leu1512Val
XM_011537034.1:c.4549T>G	XP_011535336.1:p.Leu1517Val
XM_011537035.1:c.4471T>G	XP_011535337.1:p.Leu1491Val
XM_011537036.1:c.4549T>G	XP_011535338.1:p.Leu1517Val
XM_011537037.1:c.2563T>G	XP_011535339.1:p.Leu855Val
XM_011537034.2:c.4549T>G	XP_011535336.1:p.Leu1517Val
XM_011537035.3:c.4471T>G	XP_011535337.1:p.Leu1491Val
XM_011537037.3:c.2563T>G	XP_011535339.1:p.Leu855Val
XM_017021523.1:c.4549T>G	XP_016877012.1:p.Leu1517Val
XM_017021524.2:c.3586T>G	XP_016877013.1:p.Leu1196Val
XM_017021525.2:c.3364T>G	XP_016877014.1:p.Leu1122Val
XM_017021526.2:c.3364T>G	XP_016877015.1:p.Leu1122Val
XM_017021527.1:c.3349T>G	XP_016877016.1:p.Leu1117Val
XR_001750470.1:n.4641T>G
XR_001750471.2:n.4626T>G
XR_001750472.1:n.4678T>G
NM_020937.4:c.4534T>G MANE Select	NP_065988.1:p.Leu1512Val
NM_001308133.2:c.4456T>G	NP_001295062.1:p.Leu1486Val