Canonical Allele Identifier: CA486141362
Gene: FANCM HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.45654482T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45185279T>A , CM000676.2:g.45185279T>A GRCh38
NC_000014.8:g.45654482T>A , CM000676.1:g.45654482T>A GRCh37
NC_000014.7:g.44724232T>A NCBI36
NG_007417.1:g.54347T>A , LRG_502:g.54347T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000554809.6:c.2790T>A ENSP00000450632.2:p.Val930=
ENST00000555484.2:c.356T>A
ENST00000556250.6:c.4371T>A ENSP00000452033.2:p.Val1457=
ENST00000557110.2:c.356T>A
ENST00000696642.1:c.*3389T>A ENSP00000512775.1:n.*3389T>A
ENST00000696644.1:n.314T>A
ENST00000696645.1:n.468T>A
ENST00000696647.1:c.4578T>A ENSP00000512778.1:p.Val1526=
ENST00000696648.1:c.*2603T>A ENSP00000512779.1:n.*2603T>A
ENST00000696649.1:c.4422T>A ENSP00000512780.1:p.Val1474=
ENST00000696650.1:n.4526T>A
ENST00000696659.1:c.2576T>A
ENST00000696663.1:c.3509T>A
ENST00000696664.1:c.3410T>A
ENST00000696665.1:c.356T>A
ENST00000696675.1:c.*334T>A ENSP00000512799.1:n.*334T>A
ENST00000696683.1:c.3395T>A
ENST00000696684.1:c.3395T>A
ENST00000696685.1:c.3395T>A
ENST00000696686.1:n.1315T>A
ENST00000267430.10:c.4578T>A MANE Select ENSP00000267430.5:p.Val1526=
ENST00000267430.9:c.4578T>A ENSP00000267430.5:p.Val1526=
ENST00000542564.6:c.4500T>A ENSP00000442493.2:p.Val1500=
ENST00000554809.5:c.1375T>A
ENST00000555013.1:n.411T>A
ENST00000556250.5:c.3126T>A ENSP00000452033.1:p.Val1042=
NM_001308133.1:c.4500T>A NP_001295062.1:p.Val1500=
NM_020937.2:c.4578T>A , LRG_502t1:c.4578T>A NP_065988.1:p.Val1526=
NM_020937.3:c.4578T>A NP_065988.1:p.Val1526=
XM_011537034.1:c.4593T>A XP_011535336.1:p.Val1531=
XM_011537035.1:c.4515T>A XP_011535337.1:p.Val1505=
XM_011537036.1:c.4593T>A XP_011535338.1:p.Val1531=
XM_011537037.1:c.2607T>A XP_011535339.1:p.Val869=
XM_011537034.2:c.4593T>A XP_011535336.1:p.Val1531=
XM_011537035.3:c.4515T>A XP_011535337.1:p.Val1505=
XM_011537037.3:c.2607T>A XP_011535339.1:p.Val869=
XM_017021523.1:c.4593T>A XP_016877012.1:p.Val1531=
XM_017021524.2:c.3630T>A XP_016877013.1:p.Val1210=
XM_017021525.2:c.3408T>A XP_016877014.1:p.Val1136=
XM_017021526.2:c.3408T>A XP_016877015.1:p.Val1136=
XM_017021527.1:c.3393T>A XP_016877016.1:p.Val1131=
XR_001750470.1:n.4685T>A
XR_001750471.2:n.4670T>A
XR_001750472.1:n.4722T>A
NM_020937.4:c.4578T>A MANE Select NP_065988.1:p.Val1526=
NM_001308133.2:c.4500T>A NP_001295062.1:p.Val1500=