Canonical Allele Identifier: CA389594811

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45636171T>G (hg19) ; chr14:g.45166968T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45166968T>G , CM000676.2:g.45166968T>G	GRCh38
NC_000014.8:g.45636171T>G , CM000676.1:g.45636171T>G	GRCh37
NC_000014.7:g.44705921T>G	NCBI36
NG_007417.1:g.36036T>G , LRG_502:g.36036T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000554809.6:c.19T>G	ENSP00000450632.2:p.Ser7Ala
ENST00000556036.6:c.1807T>G	ENSP00000450596.1:p.Ser603Ala
ENST00000556250.6:c.1600T>G	ENSP00000452033.2:p.Ser534Ala
ENST00000696641.1:c.1648T>G	ENSP00000512774.1:p.Ser550Ala
ENST00000696642.1:c.*618T>G	ENSP00000512775.1:n.*618T>G
ENST00000696646.1:c.*618T>G	ENSP00000512777.1:n.*618T>G
ENST00000696647.1:c.1807T>G	ENSP00000512778.1:p.Ser603Ala
ENST00000696648.1:c.1807T>G	ENSP00000512779.1:p.Ser603Ala
ENST00000696649.1:c.1807T>G	ENSP00000512780.1:p.Ser603Ala
ENST00000696650.1:n.1755T>G
ENST00000696658.1:n.2357T>G
ENST00000696662.1:c.1729T>G	ENSP00000512788.1:p.Ser577Ala
ENST00000696663.1:c.624T>G
ENST00000696664.1:c.624T>G
ENST00000696675.1:c.1807T>G	ENSP00000512799.1:p.Ser603Ala
ENST00000696683.1:c.624T>G
ENST00000696684.1:c.624T>G
ENST00000696685.1:c.624T>G
ENST00000267430.10:c.1807T>G MANE Select	ENSP00000267430.5:p.Ser603Ala
ENST00000267430.9:c.1807T>G	ENSP00000267430.5:p.Ser603Ala
ENST00000542564.6:c.1729T>G	ENSP00000442493.2:p.Ser577Ala
ENST00000556036.5:c.1807T>G	ENSP00000450596.1:p.Ser603Ala
ENST00000556250.5:c.355T>G	ENSP00000452033.1:p.Ser119Ala
NM_001308133.1:c.1729T>G	NP_001295062.1:p.Ser577Ala
NM_001308134.1:c.1807T>G	NP_001295063.1:p.Ser603Ala
NM_020937.2:c.1807T>G , LRG_502t1:c.1807T>G	NP_065988.1:p.Ser603Ala
NM_020937.3:c.1807T>G	NP_065988.1:p.Ser603Ala
XM_011537034.1:c.1807T>G	XP_011535336.1:p.Ser603Ala
XM_011537035.1:c.1729T>G	XP_011535337.1:p.Ser577Ala
XM_011537036.1:c.1807T>G	XP_011535338.1:p.Ser603Ala
XM_011537034.2:c.1807T>G	XP_011535336.1:p.Ser603Ala
XM_011537035.3:c.1729T>G	XP_011535337.1:p.Ser577Ala
XM_017021523.1:c.1807T>G	XP_016877012.1:p.Ser603Ala
XM_017021524.2:c.844T>G	XP_016877013.1:p.Ser282Ala
XM_017021525.2:c.622T>G	XP_016877014.1:p.Ser208Ala
XM_017021526.2:c.622T>G	XP_016877015.1:p.Ser208Ala
XM_017021527.1:c.622T>G	XP_016877016.1:p.Ser208Ala
XR_001750470.1:n.1899T>G
XR_001750471.2:n.1899T>G
XR_001750472.1:n.1899T>G
NM_020937.4:c.1807T>G MANE Select	NP_065988.1:p.Ser603Ala
NM_001308133.2:c.1729T>G	NP_001295062.1:p.Ser577Ala
NM_001308134.2:c.1807T>G	NP_001295063.1:p.Ser603Ala