Canonical Allele Identifier: CA389608277

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654515A>C (hg19) ; chr14:g.45185312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185312A>C , CM000676.2:g.45185312A>C	GRCh38
NC_000014.8:g.45654515A>C , CM000676.1:g.45654515A>C	GRCh37
NC_000014.7:g.44724265A>C	NCBI36
NG_007417.1:g.54380A>C , LRG_502:g.54380A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2823A>C	ENSP00000450632.2:p.Glu941Asp
ENST00000555484.2:c.389A>C
ENST00000556250.6:c.4404A>C	ENSP00000452033.2:p.Glu1468Asp
ENST00000557110.2:c.389A>C
ENST00000696642.1:c.*3422A>C	ENSP00000512775.1:n.*3422A>C
ENST00000696644.1:n.347A>C
ENST00000696645.1:n.501A>C
ENST00000696647.1:c.4611A>C	ENSP00000512778.1:p.Glu1537Asp
ENST00000696648.1:c.*2636A>C	ENSP00000512779.1:n.*2636A>C
ENST00000696649.1:c.4455A>C	ENSP00000512780.1:p.Glu1485Asp
ENST00000696650.1:n.4559A>C
ENST00000696659.1:c.2609A>C
ENST00000696663.1:c.3542A>C
ENST00000696664.1:c.3443A>C
ENST00000696665.1:c.389A>C
ENST00000696675.1:c.*367A>C	ENSP00000512799.1:n.*367A>C
ENST00000696683.1:c.3428A>C
ENST00000696684.1:c.3428A>C
ENST00000696685.1:c.3428A>C
ENST00000696686.1:n.1348A>C
ENST00000267430.10:c.4611A>C MANE Select	ENSP00000267430.5:p.Glu1537Asp
ENST00000267430.9:c.4611A>C	ENSP00000267430.5:p.Glu1537Asp
ENST00000542564.6:c.4533A>C	ENSP00000442493.2:p.Glu1511Asp
ENST00000554809.5:c.1408A>C
ENST00000555013.1:n.444A>C
ENST00000556250.5:c.3159A>C	ENSP00000452033.1:p.Glu1053Asp
NM_001308133.1:c.4533A>C	NP_001295062.1:p.Glu1511Asp
NM_020937.2:c.4611A>C , LRG_502t1:c.4611A>C	NP_065988.1:p.Glu1537Asp
NM_020937.3:c.4611A>C	NP_065988.1:p.Glu1537Asp
XM_011537034.1:c.4626A>C	XP_011535336.1:p.Glu1542Asp
XM_011537035.1:c.4548A>C	XP_011535337.1:p.Glu1516Asp
XM_011537036.1:c.4626A>C	XP_011535338.1:p.Glu1542Asp
XM_011537037.1:c.2640A>C	XP_011535339.1:p.Glu880Asp
XM_011537034.2:c.4626A>C	XP_011535336.1:p.Glu1542Asp
XM_011537035.3:c.4548A>C	XP_011535337.1:p.Glu1516Asp
XM_011537037.3:c.2640A>C	XP_011535339.1:p.Glu880Asp
XM_017021523.1:c.4626A>C	XP_016877012.1:p.Glu1542Asp
XM_017021524.2:c.3663A>C	XP_016877013.1:p.Glu1221Asp
XM_017021525.2:c.3441A>C	XP_016877014.1:p.Glu1147Asp
XM_017021526.2:c.3441A>C	XP_016877015.1:p.Glu1147Asp
XM_017021527.1:c.3426A>C	XP_016877016.1:p.Glu1142Asp
XR_001750470.1:n.4718A>C
XR_001750471.2:n.4703A>C
XR_001750472.1:n.4755A>C
NM_020937.4:c.4611A>C MANE Select	NP_065988.1:p.Glu1537Asp
NM_001308133.2:c.4533A>C	NP_001295062.1:p.Glu1511Asp