Canonical Allele Identifier: CA389608325

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654538T>A (hg19) ; chr14:g.45185335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185335T>A , CM000676.2:g.45185335T>A	GRCh38
NC_000014.8:g.45654538T>A , CM000676.1:g.45654538T>A	GRCh37
NC_000014.7:g.44724288T>A	NCBI36
NG_007417.1:g.54403T>A , LRG_502:g.54403T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2846T>A	ENSP00000450632.2:p.Phe949Tyr
ENST00000555484.2:c.412T>A
ENST00000556250.6:c.4427T>A	ENSP00000452033.2:p.Phe1476Tyr
ENST00000557110.2:c.412T>A
ENST00000696642.1:c.*3445T>A	ENSP00000512775.1:n.*3445T>A
ENST00000696644.1:n.370T>A
ENST00000696645.1:n.524T>A
ENST00000696647.1:c.4634T>A	ENSP00000512778.1:p.Phe1545Tyr
ENST00000696648.1:c.*2659T>A	ENSP00000512779.1:n.*2659T>A
ENST00000696649.1:c.4478T>A	ENSP00000512780.1:p.Phe1493Tyr
ENST00000696650.1:n.4582T>A
ENST00000696659.1:c.2632T>A
ENST00000696663.1:c.3565T>A
ENST00000696664.1:c.3466T>A
ENST00000696665.1:c.412T>A
ENST00000696675.1:c.*390T>A	ENSP00000512799.1:n.*390T>A
ENST00000696683.1:c.3451T>A
ENST00000696684.1:c.3451T>A
ENST00000696685.1:c.3451T>A
ENST00000696686.1:n.1371T>A
ENST00000267430.10:c.4634T>A MANE Select	ENSP00000267430.5:p.Phe1545Tyr
ENST00000267430.9:c.4634T>A	ENSP00000267430.5:p.Phe1545Tyr
ENST00000542564.6:c.4556T>A	ENSP00000442493.2:p.Phe1519Tyr
ENST00000554809.5:c.1431T>A
ENST00000555013.1:n.467T>A
ENST00000556250.5:c.3182T>A	ENSP00000452033.1:p.Phe1061Tyr
NM_001308133.1:c.4556T>A	NP_001295062.1:p.Phe1519Tyr
NM_020937.2:c.4634T>A , LRG_502t1:c.4634T>A	NP_065988.1:p.Phe1545Tyr
NM_020937.3:c.4634T>A	NP_065988.1:p.Phe1545Tyr
XM_011537034.1:c.4649T>A	XP_011535336.1:p.Phe1550Tyr
XM_011537035.1:c.4571T>A	XP_011535337.1:p.Phe1524Tyr
XM_011537036.1:c.4649T>A	XP_011535338.1:p.Phe1550Tyr
XM_011537037.1:c.2663T>A	XP_011535339.1:p.Phe888Tyr
XM_011537034.2:c.4649T>A	XP_011535336.1:p.Phe1550Tyr
XM_011537035.3:c.4571T>A	XP_011535337.1:p.Phe1524Tyr
XM_011537037.3:c.2663T>A	XP_011535339.1:p.Phe888Tyr
XM_017021523.1:c.4649T>A	XP_016877012.1:p.Phe1550Tyr
XM_017021524.2:c.3686T>A	XP_016877013.1:p.Phe1229Tyr
XM_017021525.2:c.3464T>A	XP_016877014.1:p.Phe1155Tyr
XM_017021526.2:c.3464T>A	XP_016877015.1:p.Phe1155Tyr
XM_017021527.1:c.3449T>A	XP_016877016.1:p.Phe1150Tyr
XR_001750470.1:n.4741T>A
XR_001750471.2:n.4726T>A
XR_001750472.1:n.4778T>A
NM_020937.4:c.4634T>A MANE Select	NP_065988.1:p.Phe1545Tyr
NM_001308133.2:c.4556T>A	NP_001295062.1:p.Phe1519Tyr