Canonical Allele Identifier: CA486141351

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654458T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185255T>C , CM000676.2:g.45185255T>C	GRCh38
NC_000014.8:g.45654458T>C , CM000676.1:g.45654458T>C	GRCh37
NC_000014.7:g.44724208T>C	NCBI36
NG_007417.1:g.54323T>C , LRG_502:g.54323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2766T>C	ENSP00000450632.2:p.Leu922=
ENST00000555484.2:c.332T>C
ENST00000556250.6:c.4347T>C	ENSP00000452033.2:p.Leu1449=
ENST00000557110.2:c.332T>C
ENST00000696642.1:c.*3365T>C	ENSP00000512775.1:n.*3365T>C
ENST00000696644.1:n.290T>C
ENST00000696645.1:n.444T>C
ENST00000696647.1:c.4554T>C	ENSP00000512778.1:p.Leu1518=
ENST00000696648.1:c.*2579T>C	ENSP00000512779.1:n.*2579T>C
ENST00000696649.1:c.4398T>C	ENSP00000512780.1:p.Leu1466=
ENST00000696650.1:n.4502T>C
ENST00000696659.1:c.2552T>C
ENST00000696663.1:c.3485T>C
ENST00000696664.1:c.3386T>C
ENST00000696665.1:c.332T>C
ENST00000696675.1:c.*310T>C	ENSP00000512799.1:n.*310T>C
ENST00000696683.1:c.3371T>C
ENST00000696684.1:c.3371T>C
ENST00000696685.1:c.3371T>C
ENST00000696686.1:n.1291T>C
ENST00000267430.10:c.4554T>C MANE Select	ENSP00000267430.5:p.Leu1518=
ENST00000267430.9:c.4554T>C	ENSP00000267430.5:p.Leu1518=
ENST00000542564.6:c.4476T>C	ENSP00000442493.2:p.Leu1492=
ENST00000554809.5:c.1351T>C
ENST00000555013.1:n.387T>C
ENST00000556250.5:c.3102T>C	ENSP00000452033.1:p.Leu1034=
NM_001308133.1:c.4476T>C	NP_001295062.1:p.Leu1492=
NM_020937.2:c.4554T>C , LRG_502t1:c.4554T>C	NP_065988.1:p.Leu1518=
NM_020937.3:c.4554T>C	NP_065988.1:p.Leu1518=
XM_011537034.1:c.4569T>C	XP_011535336.1:p.Leu1523=
XM_011537035.1:c.4491T>C	XP_011535337.1:p.Leu1497=
XM_011537036.1:c.4569T>C	XP_011535338.1:p.Leu1523=
XM_011537037.1:c.2583T>C	XP_011535339.1:p.Leu861=
XM_011537034.2:c.4569T>C	XP_011535336.1:p.Leu1523=
XM_011537035.3:c.4491T>C	XP_011535337.1:p.Leu1497=
XM_011537037.3:c.2583T>C	XP_011535339.1:p.Leu861=
XM_017021523.1:c.4569T>C	XP_016877012.1:p.Leu1523=
XM_017021524.2:c.3606T>C	XP_016877013.1:p.Leu1202=
XM_017021525.2:c.3384T>C	XP_016877014.1:p.Leu1128=
XM_017021526.2:c.3384T>C	XP_016877015.1:p.Leu1128=
XM_017021527.1:c.3369T>C	XP_016877016.1:p.Leu1123=
XR_001750470.1:n.4661T>C
XR_001750471.2:n.4646T>C
XR_001750472.1:n.4698T>C
NM_020937.4:c.4554T>C MANE Select	NP_065988.1:p.Leu1518=
NM_001308133.2:c.4476T>C	NP_001295062.1:p.Leu1492=