Canonical Allele Identifier: CA389608194

Gene: FANCM

Linked Data

• ClinVar Variation Id: 1448117
• ClinVar RCV Id: RCV002002160
• dbSNP Id: rs748721088
• gnomAD v3: 14-45185275-A-T
• gnomAD v4: 14-45185275-A-T
• MyVariant Identifiers: chr14:g.45654478A>T (hg19) ; chr14:g.45185275A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185275A>T , CM000676.2:g.45185275A>T	GRCh38
NC_000014.8:g.45654478A>T , CM000676.1:g.45654478A>T	GRCh37
NC_000014.7:g.44724228A>T	NCBI36
NG_007417.1:g.54343A>T , LRG_502:g.54343A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2786A>T	ENSP00000450632.2:p.Tyr929Phe
ENST00000555484.2:c.352A>T
ENST00000556250.6:c.4367A>T	ENSP00000452033.2:p.Tyr1456Phe
ENST00000557110.2:c.352A>T
ENST00000696642.1:c.*3385A>T	ENSP00000512775.1:n.*3385A>T
ENST00000696644.1:n.310A>T
ENST00000696645.1:n.464A>T
ENST00000696647.1:c.4574A>T	ENSP00000512778.1:p.Tyr1525Phe
ENST00000696648.1:c.*2599A>T	ENSP00000512779.1:n.*2599A>T
ENST00000696649.1:c.4418A>T	ENSP00000512780.1:p.Tyr1473Phe
ENST00000696650.1:n.4522A>T
ENST00000696659.1:c.2572A>T
ENST00000696663.1:c.3505A>T
ENST00000696664.1:c.3406A>T
ENST00000696665.1:c.352A>T
ENST00000696675.1:c.*330A>T	ENSP00000512799.1:n.*330A>T
ENST00000696683.1:c.3391A>T
ENST00000696684.1:c.3391A>T
ENST00000696685.1:c.3391A>T
ENST00000696686.1:n.1311A>T
ENST00000267430.10:c.4574A>T MANE Select	ENSP00000267430.5:p.Tyr1525Phe
ENST00000267430.9:c.4574A>T	ENSP00000267430.5:p.Tyr1525Phe
ENST00000542564.6:c.4496A>T	ENSP00000442493.2:p.Tyr1499Phe
ENST00000554809.5:c.1371A>T
ENST00000555013.1:n.407A>T
ENST00000556250.5:c.3122A>T	ENSP00000452033.1:p.Tyr1041Phe
NM_001308133.1:c.4496A>T	NP_001295062.1:p.Tyr1499Phe
NM_020937.2:c.4574A>T , LRG_502t1:c.4574A>T	NP_065988.1:p.Tyr1525Phe
NM_020937.3:c.4574A>T	NP_065988.1:p.Tyr1525Phe
XM_011537034.1:c.4589A>T	XP_011535336.1:p.Tyr1530Phe
XM_011537035.1:c.4511A>T	XP_011535337.1:p.Tyr1504Phe
XM_011537036.1:c.4589A>T	XP_011535338.1:p.Tyr1530Phe
XM_011537037.1:c.2603A>T	XP_011535339.1:p.Tyr868Phe
XM_011537034.2:c.4589A>T	XP_011535336.1:p.Tyr1530Phe
XM_011537035.3:c.4511A>T	XP_011535337.1:p.Tyr1504Phe
XM_011537037.3:c.2603A>T	XP_011535339.1:p.Tyr868Phe
XM_017021523.1:c.4589A>T	XP_016877012.1:p.Tyr1530Phe
XM_017021524.2:c.3626A>T	XP_016877013.1:p.Tyr1209Phe
XM_017021525.2:c.3404A>T	XP_016877014.1:p.Tyr1135Phe
XM_017021526.2:c.3404A>T	XP_016877015.1:p.Tyr1135Phe
XM_017021527.1:c.3389A>T	XP_016877016.1:p.Tyr1130Phe
XR_001750470.1:n.4681A>T
XR_001750471.2:n.4666A>T
XR_001750472.1:n.4718A>T
NM_020937.4:c.4574A>T MANE Select	NP_065988.1:p.Tyr1525Phe
NM_001308133.2:c.4496A>T	NP_001295062.1:p.Tyr1499Phe