Canonical Allele Identifier: CA389604704

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45176948T>G , CM000676.2:g.45176948T>G	GRCh38
NC_000014.8:g.45646151T>G , CM000676.1:g.45646151T>G	GRCh37
NC_000014.7:g.44715901T>G	NCBI36
NG_007417.1:g.46016T>G , LRG_502:g.46016T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.4194T>G MANE Select	NP_065988.1:p.Tyr1398Ter
ENST00000267430.10:c.4194T>G MANE Select	ENSP00000267430.5:p.Tyr1398Ter
NM_001308133.1:c.4116T>G	NP_001295062.1:p.Tyr1372Ter
NM_001308133.2:c.4116T>G	NP_001295062.1:p.Tyr1372Ter
NM_020937.2:c.4194T>G , LRG_502t1:c.4194T>G	NP_065988.1:p.Tyr1398Ter
NM_020937.3:c.4194T>G	NP_065988.1:p.Tyr1398Ter
ENST00000267430.9:c.4194T>G	ENSP00000267430.5:p.Tyr1398Ter
ENST00000542564.6:c.4116T>G	ENSP00000442493.2:p.Tyr1372Ter
ENST00000554809.5:c.991T>G
ENST00000554809.6:c.2406T>G	ENSP00000450632.2:p.Tyr802Ter
ENST00000556250.5:c.2742T>G	ENSP00000452033.1:p.Tyr914Ter
ENST00000556250.6:c.3987T>G	ENSP00000452033.2:p.Tyr1329Ter
ENST00000696641.1:c.4035T>G	ENSP00000512774.1:p.Tyr1345Ter
ENST00000696642.1:c.*3005T>G	ENSP00000512775.1:n.*3005T>G
ENST00000696646.1:c.*3005T>G	ENSP00000512777.1:n.*3005T>G
ENST00000696647.1:c.4194T>G	ENSP00000512778.1:p.Tyr1398Ter
ENST00000696648.1:c.*2219T>G	ENSP00000512779.1:n.*2219T>G
ENST00000696649.1:c.4038T>G	ENSP00000512780.1:p.Tyr1346Ter
ENST00000696650.1:n.4142T>G
ENST00000696659.1:c.2192T>G
ENST00000696663.1:c.3011T>G
ENST00000696664.1:c.3011T>G
ENST00000696675.1:c.4194T>G	ENSP00000512799.1:p.Tyr1398Ter
ENST00000696683.1:c.3011T>G
ENST00000696684.1:c.3011T>G
ENST00000696685.1:c.3011T>G
XM_011537034.1:c.4194T>G	XP_011535336.1:p.Tyr1398Ter
XM_011537034.2:c.4194T>G	XP_011535336.1:p.Tyr1398Ter
XM_011537035.1:c.4116T>G	XP_011535337.1:p.Tyr1372Ter
XM_011537035.3:c.4116T>G	XP_011535337.1:p.Tyr1372Ter
XM_011537036.1:c.4194T>G	XP_011535338.1:p.Tyr1398Ter
XM_011537037.1:c.2208T>G	XP_011535339.1:p.Tyr736Ter
XM_011537037.3:c.2208T>G	XP_011535339.1:p.Tyr736Ter
XM_017021523.1:c.4194T>G	XP_016877012.1:p.Tyr1398Ter
XM_017021524.2:c.3231T>G	XP_016877013.1:p.Tyr1077Ter
XM_017021525.2:c.3009T>G	XP_016877014.1:p.Tyr1003Ter
XM_017021526.2:c.3009T>G	XP_016877015.1:p.Tyr1003Ter
XM_017021527.1:c.3009T>G	XP_016877016.1:p.Tyr1003Ter
XR_001750470.1:n.4286T>G
XR_001750471.2:n.4286T>G
XR_001750472.1:n.4286T>G