Canonical Allele Identifier: CA389608151

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654457T>G (hg19) ; chr14:g.45185254T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185254T>G , CM000676.2:g.45185254T>G	GRCh38
NC_000014.8:g.45654457T>G , CM000676.1:g.45654457T>G	GRCh37
NC_000014.7:g.44724207T>G	NCBI36
NG_007417.1:g.54322T>G , LRG_502:g.54322T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2765T>G	ENSP00000450632.2:p.Leu922Arg
ENST00000555484.2:c.331T>G
ENST00000556250.6:c.4346T>G	ENSP00000452033.2:p.Leu1449Arg
ENST00000557110.2:c.331T>G
ENST00000696642.1:c.*3364T>G	ENSP00000512775.1:n.*3364T>G
ENST00000696644.1:n.289T>G
ENST00000696645.1:n.443T>G
ENST00000696647.1:c.4553T>G	ENSP00000512778.1:p.Leu1518Arg
ENST00000696648.1:c.*2578T>G	ENSP00000512779.1:n.*2578T>G
ENST00000696649.1:c.4397T>G	ENSP00000512780.1:p.Leu1466Arg
ENST00000696650.1:n.4501T>G
ENST00000696659.1:c.2551T>G
ENST00000696663.1:c.3484T>G
ENST00000696664.1:c.3385T>G
ENST00000696665.1:c.331T>G
ENST00000696675.1:c.*309T>G	ENSP00000512799.1:n.*309T>G
ENST00000696683.1:c.3370T>G
ENST00000696684.1:c.3370T>G
ENST00000696685.1:c.3370T>G
ENST00000696686.1:n.1290T>G
ENST00000267430.10:c.4553T>G MANE Select	ENSP00000267430.5:p.Leu1518Arg
ENST00000267430.9:c.4553T>G	ENSP00000267430.5:p.Leu1518Arg
ENST00000542564.6:c.4475T>G	ENSP00000442493.2:p.Leu1492Arg
ENST00000554809.5:c.1350T>G
ENST00000555013.1:n.386T>G
ENST00000556250.5:c.3101T>G	ENSP00000452033.1:p.Leu1034Arg
NM_001308133.1:c.4475T>G	NP_001295062.1:p.Leu1492Arg
NM_020937.2:c.4553T>G , LRG_502t1:c.4553T>G	NP_065988.1:p.Leu1518Arg
NM_020937.3:c.4553T>G	NP_065988.1:p.Leu1518Arg
XM_011537034.1:c.4568T>G	XP_011535336.1:p.Leu1523Arg
XM_011537035.1:c.4490T>G	XP_011535337.1:p.Leu1497Arg
XM_011537036.1:c.4568T>G	XP_011535338.1:p.Leu1523Arg
XM_011537037.1:c.2582T>G	XP_011535339.1:p.Leu861Arg
XM_011537034.2:c.4568T>G	XP_011535336.1:p.Leu1523Arg
XM_011537035.3:c.4490T>G	XP_011535337.1:p.Leu1497Arg
XM_011537037.3:c.2582T>G	XP_011535339.1:p.Leu861Arg
XM_017021523.1:c.4568T>G	XP_016877012.1:p.Leu1523Arg
XM_017021524.2:c.3605T>G	XP_016877013.1:p.Leu1202Arg
XM_017021525.2:c.3383T>G	XP_016877014.1:p.Leu1128Arg
XM_017021526.2:c.3383T>G	XP_016877015.1:p.Leu1128Arg
XM_017021527.1:c.3368T>G	XP_016877016.1:p.Leu1123Arg
XR_001750470.1:n.4660T>G
XR_001750471.2:n.4645T>G
XR_001750472.1:n.4697T>G
NM_020937.4:c.4553T>G MANE Select	NP_065988.1:p.Leu1518Arg
NM_001308133.2:c.4475T>G	NP_001295062.1:p.Leu1492Arg