Canonical Allele Identifier: CA7169164

Gene: FANCM

Linked Data

• ClinVar Variation Id: 2142037
• ClinVar RCV Id: RCV003074103
• dbSNP Id: rs747221607
• ExAC: 14:45636174 A / G
• gnomAD v2: 14-45636174-A-G
• gnomAD v3: 14-45166971-A-G
• gnomAD v4: 14-45166971-A-G
• MyVariant Identifiers: chr14:g.45636174A>G (hg19) ; chr14:g.45166971A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45166971A>G , CM000676.2:g.45166971A>G	GRCh38
NC_000014.8:g.45636174A>G , CM000676.1:g.45636174A>G	GRCh37
NC_000014.7:g.44705924A>G	NCBI36
NG_007417.1:g.36039A>G , LRG_502:g.36039A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000554809.6:c.22A>G	ENSP00000450632.2:p.Asn8Asp
ENST00000556036.6:c.1810A>G	ENSP00000450596.1:p.Asn604Asp
ENST00000556250.6:c.1603A>G	ENSP00000452033.2:p.Asn535Asp
ENST00000696641.1:c.1651A>G	ENSP00000512774.1:p.Asn551Asp
ENST00000696642.1:c.*621A>G	ENSP00000512775.1:n.*621A>G
ENST00000696646.1:c.*621A>G	ENSP00000512777.1:n.*621A>G
ENST00000696647.1:c.1810A>G	ENSP00000512778.1:p.Asn604Asp
ENST00000696648.1:c.1810A>G	ENSP00000512779.1:p.Asn604Asp
ENST00000696649.1:c.1810A>G	ENSP00000512780.1:p.Asn604Asp
ENST00000696650.1:n.1758A>G
ENST00000696658.1:n.2360A>G
ENST00000696662.1:c.1732A>G	ENSP00000512788.1:p.Asn578Asp
ENST00000696663.1:c.627A>G
ENST00000696664.1:c.627A>G
ENST00000696675.1:c.1810A>G	ENSP00000512799.1:p.Asn604Asp
ENST00000696683.1:c.627A>G
ENST00000696684.1:c.627A>G
ENST00000696685.1:c.627A>G
ENST00000267430.10:c.1810A>G MANE Select	ENSP00000267430.5:p.Asn604Asp
ENST00000267430.9:c.1810A>G	ENSP00000267430.5:p.Asn604Asp
ENST00000542564.6:c.1732A>G	ENSP00000442493.2:p.Asn578Asp
ENST00000556036.5:c.1810A>G	ENSP00000450596.1:p.Asn604Asp
ENST00000556250.5:c.358A>G	ENSP00000452033.1:p.Asn120Asp
NM_001308133.1:c.1732A>G	NP_001295062.1:p.Asn578Asp
NM_001308134.1:c.1810A>G	NP_001295063.1:p.Asn604Asp
NM_020937.2:c.1810A>G , LRG_502t1:c.1810A>G	NP_065988.1:p.Asn604Asp
NM_020937.3:c.1810A>G	NP_065988.1:p.Asn604Asp
XM_011537034.1:c.1810A>G	XP_011535336.1:p.Asn604Asp
XM_011537035.1:c.1732A>G	XP_011535337.1:p.Asn578Asp
XM_011537036.1:c.1810A>G	XP_011535338.1:p.Asn604Asp
XM_011537034.2:c.1810A>G	XP_011535336.1:p.Asn604Asp
XM_011537035.3:c.1732A>G	XP_011535337.1:p.Asn578Asp
XM_017021523.1:c.1810A>G	XP_016877012.1:p.Asn604Asp
XM_017021524.2:c.847A>G	XP_016877013.1:p.Asn283Asp
XM_017021525.2:c.625A>G	XP_016877014.1:p.Asn209Asp
XM_017021526.2:c.625A>G	XP_016877015.1:p.Asn209Asp
XM_017021527.1:c.625A>G	XP_016877016.1:p.Asn209Asp
XR_001750470.1:n.1902A>G
XR_001750471.2:n.1902A>G
XR_001750472.1:n.1902A>G
NM_020937.4:c.1810A>G MANE Select	NP_065988.1:p.Asn604Asp
NM_001308133.2:c.1732A>G	NP_001295062.1:p.Asn578Asp
NM_001308134.2:c.1810A>G	NP_001295063.1:p.Asn604Asp