Canonical Allele Identifier: CA251893
Gene: FANCM HGNC NCBI

Linked Data

ClinVar Variation Id: 1598
ClinVar RCV Id: RCV000001665
dbSNP Id: rs137852864

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45173065C>A , CM000676.2:g.45173065C>A GRCh38
NC_000014.8:g.45642268C>A , CM000676.1:g.45642268C>A GRCh37
NC_000014.7:g.44712018C>A NCBI36
NG_007417.1:g.42133C>A , LRG_502:g.42133C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000554809.6:c.383C>A ENSP00000450632.2:p.Ser128Ter
ENST00000556250.6:c.1964C>A ENSP00000452033.2:p.Ser655Ter
ENST00000696641.1:c.2012C>A ENSP00000512774.1:p.Ser671Ter
ENST00000696642.1:c.*982C>A ENSP00000512775.1:n.*982C>A
ENST00000696646.1:c.*982C>A ENSP00000512777.1:n.*982C>A
ENST00000696647.1:c.2171C>A ENSP00000512778.1:p.Ser724Ter
ENST00000696648.1:c.*196C>A ENSP00000512779.1:n.*196C>A
ENST00000696649.1:c.2161-2006C>A ENSP00000512780.1:n.2161-2006C>A
ENST00000696650.1:n.2119C>A
ENST00000696658.1:n.2721C>A
ENST00000696659.1:c.169C>A
ENST00000696663.1:c.988C>A
ENST00000696664.1:c.988C>A
ENST00000696675.1:c.2171C>A ENSP00000512799.1:p.Ser724Ter
ENST00000696683.1:c.988C>A
ENST00000696684.1:c.988C>A
ENST00000696685.1:c.988C>A
ENST00000267430.10:c.2171C>A MANE Select ENSP00000267430.5:p.Ser724Ter
ENST00000267430.9:c.2171C>A ENSP00000267430.5:p.Ser724Ter
ENST00000542564.6:c.2093C>A ENSP00000442493.2:p.Ser698Ter
ENST00000556250.5:c.719C>A ENSP00000452033.1:p.Ser240Ter
NM_001308133.1:c.2093C>A NP_001295062.1:p.Ser698Ter
NM_020937.2:c.2171C>A , LRG_502t1:c.2171C>A NP_065988.1:p.Ser724Ter
NM_020937.3:c.2171C>A NP_065988.1:p.Ser724Ter
XM_011537034.1:c.2171C>A XP_011535336.1:p.Ser724Ter
XM_011537035.1:c.2093C>A XP_011535337.1:p.Ser698Ter
XM_011537036.1:c.2171C>A XP_011535338.1:p.Ser724Ter
XM_011537037.1:c.185C>A XP_011535339.1:p.Ser62Ter
XM_011537034.2:c.2171C>A XP_011535336.1:p.Ser724Ter
XM_011537035.3:c.2093C>A XP_011535337.1:p.Ser698Ter
XM_011537037.3:c.185C>A XP_011535339.1:p.Ser62Ter
XM_017021523.1:c.2171C>A XP_016877012.1:p.Ser724Ter
XM_017021524.2:c.1208C>A XP_016877013.1:p.Ser403Ter
XM_017021525.2:c.986C>A XP_016877014.1:p.Ser329Ter
XM_017021526.2:c.986C>A XP_016877015.1:p.Ser329Ter
XM_017021527.1:c.986C>A XP_016877016.1:p.Ser329Ter
XR_001750470.1:n.2263C>A
XR_001750471.2:n.2263C>A
XR_001750472.1:n.2263C>A
NM_020937.4:c.2171C>A MANE Select NP_065988.1:p.Ser724Ter
NM_001308133.2:c.2093C>A NP_001295062.1:p.Ser698Ter