Canonical Allele Identifier: CA389608172

Gene: FANCM

Linked Data

• gnomAD v4: 14-45185265-G-T
• MyVariant Identifiers: chr14:g.45654468G>T (hg19) ; chr14:g.45185265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185265G>T , CM000676.2:g.45185265G>T	GRCh38
NC_000014.8:g.45654468G>T , CM000676.1:g.45654468G>T	GRCh37
NC_000014.7:g.44724218G>T	NCBI36
NG_007417.1:g.54333G>T , LRG_502:g.54333G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2776G>T	ENSP00000450632.2:p.Asp926Tyr
ENST00000555484.2:c.342G>T
ENST00000556250.6:c.4357G>T	ENSP00000452033.2:p.Asp1453Tyr
ENST00000557110.2:c.342G>T
ENST00000696642.1:c.*3375G>T	ENSP00000512775.1:n.*3375G>T
ENST00000696644.1:n.300G>T
ENST00000696645.1:n.454G>T
ENST00000696647.1:c.4564G>T	ENSP00000512778.1:p.Asp1522Tyr
ENST00000696648.1:c.*2589G>T	ENSP00000512779.1:n.*2589G>T
ENST00000696649.1:c.4408G>T	ENSP00000512780.1:p.Asp1470Tyr
ENST00000696650.1:n.4512G>T
ENST00000696659.1:c.2562G>T
ENST00000696663.1:c.3495G>T
ENST00000696664.1:c.3396G>T
ENST00000696665.1:c.342G>T
ENST00000696675.1:c.*320G>T	ENSP00000512799.1:n.*320G>T
ENST00000696683.1:c.3381G>T
ENST00000696684.1:c.3381G>T
ENST00000696685.1:c.3381G>T
ENST00000696686.1:n.1301G>T
ENST00000267430.10:c.4564G>T MANE Select	ENSP00000267430.5:p.Asp1522Tyr
ENST00000267430.9:c.4564G>T	ENSP00000267430.5:p.Asp1522Tyr
ENST00000542564.6:c.4486G>T	ENSP00000442493.2:p.Asp1496Tyr
ENST00000554809.5:c.1361G>T
ENST00000555013.1:n.397G>T
ENST00000556250.5:c.3112G>T	ENSP00000452033.1:p.Asp1038Tyr
NM_001308133.1:c.4486G>T	NP_001295062.1:p.Asp1496Tyr
NM_020937.2:c.4564G>T , LRG_502t1:c.4564G>T	NP_065988.1:p.Asp1522Tyr
NM_020937.3:c.4564G>T	NP_065988.1:p.Asp1522Tyr
XM_011537034.1:c.4579G>T	XP_011535336.1:p.Asp1527Tyr
XM_011537035.1:c.4501G>T	XP_011535337.1:p.Asp1501Tyr
XM_011537036.1:c.4579G>T	XP_011535338.1:p.Asp1527Tyr
XM_011537037.1:c.2593G>T	XP_011535339.1:p.Asp865Tyr
XM_011537034.2:c.4579G>T	XP_011535336.1:p.Asp1527Tyr
XM_011537035.3:c.4501G>T	XP_011535337.1:p.Asp1501Tyr
XM_011537037.3:c.2593G>T	XP_011535339.1:p.Asp865Tyr
XM_017021523.1:c.4579G>T	XP_016877012.1:p.Asp1527Tyr
XM_017021524.2:c.3616G>T	XP_016877013.1:p.Asp1206Tyr
XM_017021525.2:c.3394G>T	XP_016877014.1:p.Asp1132Tyr
XM_017021526.2:c.3394G>T	XP_016877015.1:p.Asp1132Tyr
XM_017021527.1:c.3379G>T	XP_016877016.1:p.Asp1127Tyr
XR_001750470.1:n.4671G>T
XR_001750471.2:n.4656G>T
XR_001750472.1:n.4708G>T
NM_020937.4:c.4564G>T MANE Select	NP_065988.1:p.Asp1522Tyr
NM_001308133.2:c.4486G>T	NP_001295062.1:p.Asp1496Tyr