Canonical Allele Identifier: CA389608138

Gene: FANCM

Linked Data

• dbSNP Id: rs1259929339
• gnomAD v2: 14-45654451-C-T
• gnomAD v4: 14-45185248-C-T
• MyVariant Identifiers: chr14:g.45654451C>T (hg19) ; chr14:g.45185248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185248C>T , CM000676.2:g.45185248C>T	GRCh38
NC_000014.8:g.45654451C>T , CM000676.1:g.45654451C>T	GRCh37
NC_000014.7:g.44724201C>T	NCBI36
NG_007417.1:g.54316C>T , LRG_502:g.54316C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000554809.6:c.2759C>T	ENSP00000450632.2:p.Ala920Val
ENST00000555484.2:c.325C>T
ENST00000556250.6:c.4340C>T	ENSP00000452033.2:p.Ala1447Val
ENST00000557110.2:c.325C>T
ENST00000696642.1:c.*3358C>T	ENSP00000512775.1:n.*3358C>T
ENST00000696644.1:n.283C>T
ENST00000696645.1:n.437C>T
ENST00000696647.1:c.4547C>T	ENSP00000512778.1:p.Ala1516Val
ENST00000696648.1:c.*2572C>T	ENSP00000512779.1:n.*2572C>T
ENST00000696649.1:c.4391C>T	ENSP00000512780.1:p.Ala1464Val
ENST00000696650.1:n.4495C>T
ENST00000696659.1:c.2545C>T
ENST00000696663.1:c.3478C>T
ENST00000696664.1:c.3379C>T
ENST00000696665.1:c.325C>T
ENST00000696675.1:c.*303C>T	ENSP00000512799.1:n.*303C>T
ENST00000696683.1:c.3364C>T
ENST00000696684.1:c.3364C>T
ENST00000696685.1:c.3364C>T
ENST00000696686.1:n.1284C>T
ENST00000267430.10:c.4547C>T MANE Select	ENSP00000267430.5:p.Ala1516Val
ENST00000267430.9:c.4547C>T	ENSP00000267430.5:p.Ala1516Val
ENST00000542564.6:c.4469C>T	ENSP00000442493.2:p.Ala1490Val
ENST00000554809.5:c.1344C>T
ENST00000555013.1:n.380C>T
ENST00000556250.5:c.3095C>T	ENSP00000452033.1:p.Ala1032Val
NM_001308133.1:c.4469C>T	NP_001295062.1:p.Ala1490Val
NM_020937.2:c.4547C>T , LRG_502t1:c.4547C>T	NP_065988.1:p.Ala1516Val
NM_020937.3:c.4547C>T	NP_065988.1:p.Ala1516Val
XM_011537034.1:c.4562C>T	XP_011535336.1:p.Ala1521Val
XM_011537035.1:c.4484C>T	XP_011535337.1:p.Ala1495Val
XM_011537036.1:c.4562C>T	XP_011535338.1:p.Ala1521Val
XM_011537037.1:c.2576C>T	XP_011535339.1:p.Ala859Val
XM_011537034.2:c.4562C>T	XP_011535336.1:p.Ala1521Val
XM_011537035.3:c.4484C>T	XP_011535337.1:p.Ala1495Val
XM_011537037.3:c.2576C>T	XP_011535339.1:p.Ala859Val
XM_017021523.1:c.4562C>T	XP_016877012.1:p.Ala1521Val
XM_017021524.2:c.3599C>T	XP_016877013.1:p.Ala1200Val
XM_017021525.2:c.3377C>T	XP_016877014.1:p.Ala1126Val
XM_017021526.2:c.3377C>T	XP_016877015.1:p.Ala1126Val
XM_017021527.1:c.3362C>T	XP_016877016.1:p.Ala1121Val
XR_001750470.1:n.4654C>T
XR_001750471.2:n.4639C>T
XR_001750472.1:n.4691C>T
NM_020937.4:c.4547C>T MANE Select	NP_065988.1:p.Ala1516Val
NM_001308133.2:c.4469C>T	NP_001295062.1:p.Ala1490Val