Canonical Allele Identifier: CA389608322

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654537T>A (hg19) ; chr14:g.45185334T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185334T>A , CM000676.2:g.45185334T>A	GRCh38
NC_000014.8:g.45654537T>A , CM000676.1:g.45654537T>A	GRCh37
NC_000014.7:g.44724287T>A	NCBI36
NG_007417.1:g.54402T>A , LRG_502:g.54402T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2845T>A	ENSP00000450632.2:p.Phe949Ile
ENST00000555484.2:c.411T>A
ENST00000556250.6:c.4426T>A	ENSP00000452033.2:p.Phe1476Ile
ENST00000557110.2:c.411T>A
ENST00000696642.1:c.*3444T>A	ENSP00000512775.1:n.*3444T>A
ENST00000696644.1:n.369T>A
ENST00000696645.1:n.523T>A
ENST00000696647.1:c.4633T>A	ENSP00000512778.1:p.Phe1545Ile
ENST00000696648.1:c.*2658T>A	ENSP00000512779.1:n.*2658T>A
ENST00000696649.1:c.4477T>A	ENSP00000512780.1:p.Phe1493Ile
ENST00000696650.1:n.4581T>A
ENST00000696659.1:c.2631T>A
ENST00000696663.1:c.3564T>A
ENST00000696664.1:c.3465T>A
ENST00000696665.1:c.411T>A
ENST00000696675.1:c.*389T>A	ENSP00000512799.1:n.*389T>A
ENST00000696683.1:c.3450T>A
ENST00000696684.1:c.3450T>A
ENST00000696685.1:c.3450T>A
ENST00000696686.1:n.1370T>A
ENST00000267430.10:c.4633T>A MANE Select	ENSP00000267430.5:p.Phe1545Ile
ENST00000267430.9:c.4633T>A	ENSP00000267430.5:p.Phe1545Ile
ENST00000542564.6:c.4555T>A	ENSP00000442493.2:p.Phe1519Ile
ENST00000554809.5:c.1430T>A
ENST00000555013.1:n.466T>A
ENST00000556250.5:c.3181T>A	ENSP00000452033.1:p.Phe1061Ile
NM_001308133.1:c.4555T>A	NP_001295062.1:p.Phe1519Ile
NM_020937.2:c.4633T>A , LRG_502t1:c.4633T>A	NP_065988.1:p.Phe1545Ile
NM_020937.3:c.4633T>A	NP_065988.1:p.Phe1545Ile
XM_011537034.1:c.4648T>A	XP_011535336.1:p.Phe1550Ile
XM_011537035.1:c.4570T>A	XP_011535337.1:p.Phe1524Ile
XM_011537036.1:c.4648T>A	XP_011535338.1:p.Phe1550Ile
XM_011537037.1:c.2662T>A	XP_011535339.1:p.Phe888Ile
XM_011537034.2:c.4648T>A	XP_011535336.1:p.Phe1550Ile
XM_011537035.3:c.4570T>A	XP_011535337.1:p.Phe1524Ile
XM_011537037.3:c.2662T>A	XP_011535339.1:p.Phe888Ile
XM_017021523.1:c.4648T>A	XP_016877012.1:p.Phe1550Ile
XM_017021524.2:c.3685T>A	XP_016877013.1:p.Phe1229Ile
XM_017021525.2:c.3463T>A	XP_016877014.1:p.Phe1155Ile
XM_017021526.2:c.3463T>A	XP_016877015.1:p.Phe1155Ile
XM_017021527.1:c.3448T>A	XP_016877016.1:p.Phe1150Ile
XR_001750470.1:n.4740T>A
XR_001750471.2:n.4725T>A
XR_001750472.1:n.4777T>A
NM_020937.4:c.4633T>A MANE Select	NP_065988.1:p.Phe1545Ile
NM_001308133.2:c.4555T>A	NP_001295062.1:p.Phe1519Ile