Canonical Allele Identifier: CA7169906
Gene: FANCM HGNC NCBI
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45189123C>T , CM000676.2:g.45189123C>T GRCh38
NC_000014.8:g.45658326C>T , CM000676.1:g.45658326C>T GRCh37
NC_000014.7:g.44728076C>T NCBI36
NG_007417.1:g.58191C>T , LRG_502:g.58191C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000554809.6:c.3313C>T ENSP00000450632.2:p.Gln1105Ter
ENST00000555484.2:c.879C>T
ENST00000556250.6:c.4894C>T ENSP00000452033.2:p.Gln1632Ter
ENST00000557110.2:c.879C>T
ENST00000696642.1:c.*3912C>T ENSP00000512775.1:n.*3912C>T
ENST00000696645.1:n.991C>T
ENST00000696647.1:c.5101C>T ENSP00000512778.1:p.Gln1701Ter
ENST00000696648.1:c.*3126C>T ENSP00000512779.1:n.*3126C>T
ENST00000696649.1:c.4945C>T ENSP00000512780.1:p.Gln1649Ter
ENST00000696650.1:n.5049C>T
ENST00000696659.1:c.3099C>T
ENST00000696663.1:c.4032C>T
ENST00000696664.1:c.3933C>T
ENST00000696665.1:c.879C>T
ENST00000696675.1:c.*857C>T ENSP00000512799.1:n.*857C>T
ENST00000696683.1:c.3918C>T
ENST00000696684.1:c.3918C>T
ENST00000696685.1:c.3918C>T
ENST00000696686.1:n.1838C>T
ENST00000267430.10:c.5101C>T MANE Select ENSP00000267430.5:p.Gln1701Ter
ENST00000267430.9:c.5101C>T ENSP00000267430.5:p.Gln1701Ter
ENST00000542564.6:c.5023C>T ENSP00000442493.2:p.Gln1675Ter
ENST00000554809.5:c.1898C>T
ENST00000556250.5:c.3649C>T ENSP00000452033.1:p.Gln1217Ter
NM_001308133.1:c.5023C>T NP_001295062.1:p.Gln1675Ter
NM_020937.2:c.5101C>T , LRG_502t1:c.5101C>T NP_065988.1:p.Gln1701Ter
NM_020937.3:c.5101C>T NP_065988.1:p.Gln1701Ter
XM_011537034.1:c.5116C>T XP_011535336.1:p.Gln1706Ter
XM_011537035.1:c.5038C>T XP_011535337.1:p.Gln1680Ter
XM_011537036.1:c.5116C>T XP_011535338.1:p.Gln1706Ter
XM_011537037.1:c.3130C>T XP_011535339.1:p.Gln1044Ter
XM_011537034.2:c.5116C>T XP_011535336.1:p.Gln1706Ter
XM_011537035.3:c.5038C>T XP_011535337.1:p.Gln1680Ter
XM_011537037.3:c.3130C>T XP_011535339.1:p.Gln1044Ter
XM_017021523.1:c.5116C>T XP_016877012.1:p.Gln1706Ter
XM_017021524.2:c.4153C>T XP_016877013.1:p.Gln1385Ter
XM_017021525.2:c.3931C>T XP_016877014.1:p.Gln1311Ter
XM_017021526.2:c.3931C>T XP_016877015.1:p.Gln1311Ter
XM_017021527.1:c.3916C>T XP_016877016.1:p.Gln1306Ter
XR_001750470.1:n.5208C>T
XR_001750471.2:n.5193C>T
NM_020937.4:c.5101C>T MANE Select NP_065988.1:p.Gln1701Ter
NM_001308133.2:c.5023C>T NP_001295062.1:p.Gln1675Ter