Canonical Allele Identifier: CA389608091

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654442A>T (hg19) ; chr14:g.45185239A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185239A>T , CM000676.2:g.45185239A>T	GRCh38
NC_000014.8:g.45654442A>T , CM000676.1:g.45654442A>T	GRCh37
NC_000014.7:g.44724192A>T	NCBI36
NG_007417.1:g.54307A>T , LRG_502:g.54307A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000554809.6:c.2750A>T	ENSP00000450632.2:p.Asp917Val
ENST00000555484.2:c.316A>T
ENST00000556250.6:c.4331A>T	ENSP00000452033.2:p.Asp1444Val
ENST00000557110.2:c.316A>T
ENST00000696642.1:c.*3349A>T	ENSP00000512775.1:n.*3349A>T
ENST00000696644.1:n.274A>T
ENST00000696645.1:n.428A>T
ENST00000696647.1:c.4538A>T	ENSP00000512778.1:p.Asp1513Val
ENST00000696648.1:c.*2563A>T	ENSP00000512779.1:n.*2563A>T
ENST00000696649.1:c.4382A>T	ENSP00000512780.1:p.Asp1461Val
ENST00000696650.1:n.4486A>T
ENST00000696659.1:c.2536A>T
ENST00000696663.1:c.3469A>T
ENST00000696664.1:c.3370A>T
ENST00000696665.1:c.316A>T
ENST00000696675.1:c.*294A>T	ENSP00000512799.1:n.*294A>T
ENST00000696683.1:c.3355A>T
ENST00000696684.1:c.3355A>T
ENST00000696685.1:c.3355A>T
ENST00000696686.1:n.1275A>T
ENST00000267430.10:c.4538A>T MANE Select	ENSP00000267430.5:p.Asp1513Val
ENST00000267430.9:c.4538A>T	ENSP00000267430.5:p.Asp1513Val
ENST00000542564.6:c.4460A>T	ENSP00000442493.2:p.Asp1487Val
ENST00000554809.5:c.1335A>T
ENST00000555013.1:n.371A>T
ENST00000556250.5:c.3086A>T	ENSP00000452033.1:p.Asp1029Val
NM_001308133.1:c.4460A>T	NP_001295062.1:p.Asp1487Val
NM_020937.2:c.4538A>T , LRG_502t1:c.4538A>T	NP_065988.1:p.Asp1513Val
NM_020937.3:c.4538A>T	NP_065988.1:p.Asp1513Val
XM_011537034.1:c.4553A>T	XP_011535336.1:p.Asp1518Val
XM_011537035.1:c.4475A>T	XP_011535337.1:p.Asp1492Val
XM_011537036.1:c.4553A>T	XP_011535338.1:p.Asp1518Val
XM_011537037.1:c.2567A>T	XP_011535339.1:p.Asp856Val
XM_011537034.2:c.4553A>T	XP_011535336.1:p.Asp1518Val
XM_011537035.3:c.4475A>T	XP_011535337.1:p.Asp1492Val
XM_011537037.3:c.2567A>T	XP_011535339.1:p.Asp856Val
XM_017021523.1:c.4553A>T	XP_016877012.1:p.Asp1518Val
XM_017021524.2:c.3590A>T	XP_016877013.1:p.Asp1197Val
XM_017021525.2:c.3368A>T	XP_016877014.1:p.Asp1123Val
XM_017021526.2:c.3368A>T	XP_016877015.1:p.Asp1123Val
XM_017021527.1:c.3353A>T	XP_016877016.1:p.Asp1118Val
XR_001750470.1:n.4645A>T
XR_001750471.2:n.4630A>T
XR_001750472.1:n.4682A>T
NM_020937.4:c.4538A>T MANE Select	NP_065988.1:p.Asp1513Val
NM_001308133.2:c.4460A>T	NP_001295062.1:p.Asp1487Val