Canonical Allele Identifier: CA389599336

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45644816A>T (hg19) ; chr14:g.45175613A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45175613A>T , CM000676.2:g.45175613A>T	GRCh38
NC_000014.8:g.45644816A>T , CM000676.1:g.45644816A>T	GRCh37
NC_000014.7:g.44714566A>T	NCBI36
NG_007417.1:g.44681A>T , LRG_502:g.44681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.1071A>T	ENSP00000450632.2:p.Lys357Asn
ENST00000556250.6:c.2652A>T	ENSP00000452033.2:p.Lys884Asn
ENST00000696641.1:c.2700A>T	ENSP00000512774.1:p.Lys900Asn
ENST00000696642.1:c.*1670A>T	ENSP00000512775.1:n.*1670A>T
ENST00000696646.1:c.*1670A>T	ENSP00000512777.1:n.*1670A>T
ENST00000696647.1:c.2859A>T	ENSP00000512778.1:p.Lys953Asn
ENST00000696648.1:c.*884A>T	ENSP00000512779.1:n.*884A>T
ENST00000696649.1:c.2703A>T	ENSP00000512780.1:p.Lys901Asn
ENST00000696650.1:n.2807A>T
ENST00000696659.1:c.857A>T
ENST00000696663.1:c.1676A>T
ENST00000696664.1:c.1676A>T
ENST00000696675.1:c.2859A>T	ENSP00000512799.1:p.Lys953Asn
ENST00000696683.1:c.1676A>T
ENST00000696684.1:c.1676A>T
ENST00000696685.1:c.1676A>T
ENST00000267430.10:c.2859A>T MANE Select	ENSP00000267430.5:p.Lys953Asn
ENST00000267430.9:c.2859A>T	ENSP00000267430.5:p.Lys953Asn
ENST00000542564.6:c.2781A>T	ENSP00000442493.2:p.Lys927Asn
ENST00000556250.5:c.1407A>T	ENSP00000452033.1:p.Lys469Asn
NM_001308133.1:c.2781A>T	NP_001295062.1:p.Lys927Asn
NM_020937.2:c.2859A>T , LRG_502t1:c.2859A>T	NP_065988.1:p.Lys953Asn
NM_020937.3:c.2859A>T	NP_065988.1:p.Lys953Asn
XM_011537034.1:c.2859A>T	XP_011535336.1:p.Lys953Asn
XM_011537035.1:c.2781A>T	XP_011535337.1:p.Lys927Asn
XM_011537036.1:c.2859A>T	XP_011535338.1:p.Lys953Asn
XM_011537037.1:c.873A>T	XP_011535339.1:p.Lys291Asn
XM_011537034.2:c.2859A>T	XP_011535336.1:p.Lys953Asn
XM_011537035.3:c.2781A>T	XP_011535337.1:p.Lys927Asn
XM_011537037.3:c.873A>T	XP_011535339.1:p.Lys291Asn
XM_017021523.1:c.2859A>T	XP_016877012.1:p.Lys953Asn
XM_017021524.2:c.1896A>T	XP_016877013.1:p.Lys632Asn
XM_017021525.2:c.1674A>T	XP_016877014.1:p.Lys558Asn
XM_017021526.2:c.1674A>T	XP_016877015.1:p.Lys558Asn
XM_017021527.1:c.1674A>T	XP_016877016.1:p.Lys558Asn
XR_001750470.1:n.2951A>T
XR_001750471.2:n.2951A>T
XR_001750472.1:n.2951A>T
NM_020937.4:c.2859A>T MANE Select	NP_065988.1:p.Lys953Asn
NM_001308133.2:c.2781A>T	NP_001295062.1:p.Lys927Asn