Canonical Allele Identifier: CA389608210

Gene: FANCM

Linked Data

• gnomAD v4: 14-45185284-C-A
• MyVariant Identifiers: chr14:g.45654487C>A (hg19) ; chr14:g.45185284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185284C>A , CM000676.2:g.45185284C>A	GRCh38
NC_000014.8:g.45654487C>A , CM000676.1:g.45654487C>A	GRCh37
NC_000014.7:g.44724237C>A	NCBI36
NG_007417.1:g.54352C>A , LRG_502:g.54352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2795C>A	ENSP00000450632.2:p.Ser932Ter
ENST00000555484.2:c.361C>A
ENST00000556250.6:c.4376C>A	ENSP00000452033.2:p.Ser1459Ter
ENST00000557110.2:c.361C>A
ENST00000696642.1:c.*3394C>A	ENSP00000512775.1:n.*3394C>A
ENST00000696644.1:n.319C>A
ENST00000696645.1:n.473C>A
ENST00000696647.1:c.4583C>A	ENSP00000512778.1:p.Ser1528Ter
ENST00000696648.1:c.*2608C>A	ENSP00000512779.1:n.*2608C>A
ENST00000696649.1:c.4427C>A	ENSP00000512780.1:p.Ser1476Ter
ENST00000696650.1:n.4531C>A
ENST00000696659.1:c.2581C>A
ENST00000696663.1:c.3514C>A
ENST00000696664.1:c.3415C>A
ENST00000696665.1:c.361C>A
ENST00000696675.1:c.*339C>A	ENSP00000512799.1:n.*339C>A
ENST00000696683.1:c.3400C>A
ENST00000696684.1:c.3400C>A
ENST00000696685.1:c.3400C>A
ENST00000696686.1:n.1320C>A
ENST00000267430.10:c.4583C>A MANE Select	ENSP00000267430.5:p.Ser1528Ter
ENST00000267430.9:c.4583C>A	ENSP00000267430.5:p.Ser1528Ter
ENST00000542564.6:c.4505C>A	ENSP00000442493.2:p.Ser1502Ter
ENST00000554809.5:c.1380C>A
ENST00000555013.1:n.416C>A
ENST00000556250.5:c.3131C>A	ENSP00000452033.1:p.Ser1044Ter
NM_001308133.1:c.4505C>A	NP_001295062.1:p.Ser1502Ter
NM_020937.2:c.4583C>A , LRG_502t1:c.4583C>A	NP_065988.1:p.Ser1528Ter
NM_020937.3:c.4583C>A	NP_065988.1:p.Ser1528Ter
XM_011537034.1:c.4598C>A	XP_011535336.1:p.Ser1533Ter
XM_011537035.1:c.4520C>A	XP_011535337.1:p.Ser1507Ter
XM_011537036.1:c.4598C>A	XP_011535338.1:p.Ser1533Ter
XM_011537037.1:c.2612C>A	XP_011535339.1:p.Ser871Ter
XM_011537034.2:c.4598C>A	XP_011535336.1:p.Ser1533Ter
XM_011537035.3:c.4520C>A	XP_011535337.1:p.Ser1507Ter
XM_011537037.3:c.2612C>A	XP_011535339.1:p.Ser871Ter
XM_017021523.1:c.4598C>A	XP_016877012.1:p.Ser1533Ter
XM_017021524.2:c.3635C>A	XP_016877013.1:p.Ser1212Ter
XM_017021525.2:c.3413C>A	XP_016877014.1:p.Ser1138Ter
XM_017021526.2:c.3413C>A	XP_016877015.1:p.Ser1138Ter
XM_017021527.1:c.3398C>A	XP_016877016.1:p.Ser1133Ter
XR_001750470.1:n.4690C>A
XR_001750471.2:n.4675C>A
XR_001750472.1:n.4727C>A
NM_020937.4:c.4583C>A MANE Select	NP_065988.1:p.Ser1528Ter
NM_001308133.2:c.4505C>A	NP_001295062.1:p.Ser1502Ter