Canonical Allele Identifier: CA389608097

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654443T>A (hg19) ; chr14:g.45185240T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185240T>A , CM000676.2:g.45185240T>A	GRCh38
NC_000014.8:g.45654443T>A , CM000676.1:g.45654443T>A	GRCh37
NC_000014.7:g.44724193T>A	NCBI36
NG_007417.1:g.54308T>A , LRG_502:g.54308T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000554809.6:c.2751T>A	ENSP00000450632.2:p.Asp917Glu
ENST00000555484.2:c.317T>A
ENST00000556250.6:c.4332T>A	ENSP00000452033.2:p.Asp1444Glu
ENST00000557110.2:c.317T>A
ENST00000696642.1:c.*3350T>A	ENSP00000512775.1:n.*3350T>A
ENST00000696644.1:n.275T>A
ENST00000696645.1:n.429T>A
ENST00000696647.1:c.4539T>A	ENSP00000512778.1:p.Asp1513Glu
ENST00000696648.1:c.*2564T>A	ENSP00000512779.1:n.*2564T>A
ENST00000696649.1:c.4383T>A	ENSP00000512780.1:p.Asp1461Glu
ENST00000696650.1:n.4487T>A
ENST00000696659.1:c.2537T>A
ENST00000696663.1:c.3470T>A
ENST00000696664.1:c.3371T>A
ENST00000696665.1:c.317T>A
ENST00000696675.1:c.*295T>A	ENSP00000512799.1:n.*295T>A
ENST00000696683.1:c.3356T>A
ENST00000696684.1:c.3356T>A
ENST00000696685.1:c.3356T>A
ENST00000696686.1:n.1276T>A
ENST00000267430.10:c.4539T>A MANE Select	ENSP00000267430.5:p.Asp1513Glu
ENST00000267430.9:c.4539T>A	ENSP00000267430.5:p.Asp1513Glu
ENST00000542564.6:c.4461T>A	ENSP00000442493.2:p.Asp1487Glu
ENST00000554809.5:c.1336T>A
ENST00000555013.1:n.372T>A
ENST00000556250.5:c.3087T>A	ENSP00000452033.1:p.Asp1029Glu
NM_001308133.1:c.4461T>A	NP_001295062.1:p.Asp1487Glu
NM_020937.2:c.4539T>A , LRG_502t1:c.4539T>A	NP_065988.1:p.Asp1513Glu
NM_020937.3:c.4539T>A	NP_065988.1:p.Asp1513Glu
XM_011537034.1:c.4554T>A	XP_011535336.1:p.Asp1518Glu
XM_011537035.1:c.4476T>A	XP_011535337.1:p.Asp1492Glu
XM_011537036.1:c.4554T>A	XP_011535338.1:p.Asp1518Glu
XM_011537037.1:c.2568T>A	XP_011535339.1:p.Asp856Glu
XM_011537034.2:c.4554T>A	XP_011535336.1:p.Asp1518Glu
XM_011537035.3:c.4476T>A	XP_011535337.1:p.Asp1492Glu
XM_011537037.3:c.2568T>A	XP_011535339.1:p.Asp856Glu
XM_017021523.1:c.4554T>A	XP_016877012.1:p.Asp1518Glu
XM_017021524.2:c.3591T>A	XP_016877013.1:p.Asp1197Glu
XM_017021525.2:c.3369T>A	XP_016877014.1:p.Asp1123Glu
XM_017021526.2:c.3369T>A	XP_016877015.1:p.Asp1123Glu
XM_017021527.1:c.3354T>A	XP_016877016.1:p.Asp1118Glu
XR_001750470.1:n.4646T>A
XR_001750471.2:n.4631T>A
XR_001750472.1:n.4683T>A
NM_020937.4:c.4539T>A MANE Select	NP_065988.1:p.Asp1513Glu
NM_001308133.2:c.4461T>A	NP_001295062.1:p.Asp1487Glu