Canonical Allele Identifier: CA486141412
Gene: FANCM HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.45654542A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45185339A>G , CM000676.2:g.45185339A>G GRCh38
NC_000014.8:g.45654542A>G , CM000676.1:g.45654542A>G GRCh37
NC_000014.7:g.44724292A>G NCBI36
NG_007417.1:g.54407A>G , LRG_502:g.54407A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000554809.6:c.2850A>G ENSP00000450632.2:p.Leu950=
ENST00000555484.2:c.416A>G
ENST00000556250.6:c.4431A>G ENSP00000452033.2:p.Leu1477=
ENST00000557110.2:c.416A>G
ENST00000696642.1:c.*3449A>G ENSP00000512775.1:n.*3449A>G
ENST00000696644.1:n.374A>G
ENST00000696645.1:n.528A>G
ENST00000696647.1:c.4638A>G ENSP00000512778.1:p.Leu1546=
ENST00000696648.1:c.*2663A>G ENSP00000512779.1:n.*2663A>G
ENST00000696649.1:c.4482A>G ENSP00000512780.1:p.Leu1494=
ENST00000696650.1:n.4586A>G
ENST00000696659.1:c.2636A>G
ENST00000696663.1:c.3569A>G
ENST00000696664.1:c.3470A>G
ENST00000696665.1:c.416A>G
ENST00000696675.1:c.*394A>G ENSP00000512799.1:n.*394A>G
ENST00000696683.1:c.3455A>G
ENST00000696684.1:c.3455A>G
ENST00000696685.1:c.3455A>G
ENST00000696686.1:n.1375A>G
ENST00000267430.10:c.4638A>G MANE Select ENSP00000267430.5:p.Leu1546=
ENST00000267430.9:c.4638A>G ENSP00000267430.5:p.Leu1546=
ENST00000542564.6:c.4560A>G ENSP00000442493.2:p.Leu1520=
ENST00000554809.5:c.1435A>G
ENST00000555013.1:n.471A>G
ENST00000556250.5:c.3186A>G ENSP00000452033.1:p.Leu1062=
NM_001308133.1:c.4560A>G NP_001295062.1:p.Leu1520=
NM_020937.2:c.4638A>G , LRG_502t1:c.4638A>G NP_065988.1:p.Leu1546=
NM_020937.3:c.4638A>G NP_065988.1:p.Leu1546=
XM_011537034.1:c.4653A>G XP_011535336.1:p.Leu1551=
XM_011537035.1:c.4575A>G XP_011535337.1:p.Leu1525=
XM_011537036.1:c.4653A>G XP_011535338.1:p.Leu1551=
XM_011537037.1:c.2667A>G XP_011535339.1:p.Leu889=
XM_011537034.2:c.4653A>G XP_011535336.1:p.Leu1551=
XM_011537035.3:c.4575A>G XP_011535337.1:p.Leu1525=
XM_011537037.3:c.2667A>G XP_011535339.1:p.Leu889=
XM_017021523.1:c.4653A>G XP_016877012.1:p.Leu1551=
XM_017021524.2:c.3690A>G XP_016877013.1:p.Leu1230=
XM_017021525.2:c.3468A>G XP_016877014.1:p.Leu1156=
XM_017021526.2:c.3468A>G XP_016877015.1:p.Leu1156=
XM_017021527.1:c.3453A>G XP_016877016.1:p.Leu1151=
XR_001750470.1:n.4745A>G
XR_001750471.2:n.4730A>G
XR_001750472.1:n.4782A>G
NM_020937.4:c.4638A>G MANE Select NP_065988.1:p.Leu1546=
NM_001308133.2:c.4560A>G NP_001295062.1:p.Leu1520=