Canonical Allele Identifier: CA389608008

Gene: FANCM

Linked Data

• ClinVar Variation Id: 1312566
• ClinVar RCV Id: RCV001761454 ; RCV003523105
• dbSNP Id: rs775457463
• gnomAD v4: 14-45185218-A-T
• MyVariant Identifiers: chr14:g.45654421A>T (hg19) ; chr14:g.45185218A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185218A>T , CM000676.2:g.45185218A>T	GRCh38
NC_000014.8:g.45654421A>T , CM000676.1:g.45654421A>T	GRCh37
NC_000014.7:g.44724171A>T	NCBI36
NG_007417.1:g.54286A>T , LRG_502:g.54286A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2729A>T	ENSP00000450632.2:p.His910Leu
ENST00000555484.2:c.295A>T
ENST00000556250.6:c.4310A>T	ENSP00000452033.2:p.His1437Leu
ENST00000557110.2:c.295A>T
ENST00000696642.1:c.*3328A>T	ENSP00000512775.1:n.*3328A>T
ENST00000696644.1:n.253A>T
ENST00000696645.1:n.407A>T
ENST00000696647.1:c.4517A>T	ENSP00000512778.1:p.His1506Leu
ENST00000696648.1:c.*2542A>T	ENSP00000512779.1:n.*2542A>T
ENST00000696649.1:c.4361A>T	ENSP00000512780.1:p.His1454Leu
ENST00000696650.1:n.4465A>T
ENST00000696659.1:c.2515A>T
ENST00000696663.1:c.3448A>T
ENST00000696664.1:c.3349A>T
ENST00000696665.1:c.295A>T
ENST00000696675.1:c.*273A>T	ENSP00000512799.1:n.*273A>T
ENST00000696683.1:c.3334A>T
ENST00000696684.1:c.3334A>T
ENST00000696685.1:c.3334A>T
ENST00000696686.1:n.1254A>T
ENST00000267430.10:c.4517A>T MANE Select	ENSP00000267430.5:p.His1506Leu
ENST00000267430.9:c.4517A>T	ENSP00000267430.5:p.His1506Leu
ENST00000542564.6:c.4439A>T	ENSP00000442493.2:p.His1480Leu
ENST00000554809.5:c.1314A>T
ENST00000555013.1:n.350A>T
ENST00000556250.5:c.3065A>T	ENSP00000452033.1:p.His1022Leu
NM_001308133.1:c.4439A>T	NP_001295062.1:p.His1480Leu
NM_020937.2:c.4517A>T , LRG_502t1:c.4517A>T	NP_065988.1:p.His1506Leu
NM_020937.3:c.4517A>T	NP_065988.1:p.His1506Leu
XM_011537034.1:c.4532A>T	XP_011535336.1:p.His1511Leu
XM_011537035.1:c.4454A>T	XP_011535337.1:p.His1485Leu
XM_011537036.1:c.4532A>T	XP_011535338.1:p.His1511Leu
XM_011537037.1:c.2546A>T	XP_011535339.1:p.His849Leu
XM_011537034.2:c.4532A>T	XP_011535336.1:p.His1511Leu
XM_011537035.3:c.4454A>T	XP_011535337.1:p.His1485Leu
XM_011537037.3:c.2546A>T	XP_011535339.1:p.His849Leu
XM_017021523.1:c.4532A>T	XP_016877012.1:p.His1511Leu
XM_017021524.2:c.3569A>T	XP_016877013.1:p.His1190Leu
XM_017021525.2:c.3347A>T	XP_016877014.1:p.His1116Leu
XM_017021526.2:c.3347A>T	XP_016877015.1:p.His1116Leu
XM_017021527.1:c.3332A>T	XP_016877016.1:p.His1111Leu
XR_001750470.1:n.4624A>T
XR_001750471.2:n.4609A>T
XR_001750472.1:n.4661A>T
NM_020937.4:c.4517A>T MANE Select	NP_065988.1:p.His1506Leu
NM_001308133.2:c.4439A>T	NP_001295062.1:p.His1480Leu