Canonical Allele Identifier: CA397443264

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89769882C>T , CM000678.2:g.89769882C>T	GRCh38
NC_000016.9:g.89836290C>T , CM000678.1:g.89836290C>T	GRCh37
NC_000016.8:g.88363791C>T	NCBI36
NG_011706.1:g.51776G>A , LRG_495:g.51776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*953G>A	ENSP00000512522.1:n.*953G>A
ENST00000564475.6:c.2459G>A	ENSP00000454977.2:p.Ser820Asn
ENST00000567205.2:c.2459G>A	ENSP00000457027.2:p.Ser820Asn
ENST00000567510.2:c.1158G>A	ENSP00000455969.1:n.1158G>A
ENST00000568369.6:c.2459G>A	ENSP00000456829.1:p.Ser820Asn
ENST00000696274.1:n.2420G>A
ENST00000696275.1:c.*1694G>A	ENSP00000512517.1:n.*1694G>A
ENST00000696276.1:n.2502G>A
ENST00000696286.1:c.2459G>A	ENSP00000512523.1:p.Ser820Asn
ENST00000696287.1:c.2459G>A	ENSP00000512524.1:p.Ser820Asn
ENST00000696291.1:c.*2179G>A	ENSP00000512530.1:n.*2179G>A
ENST00000389301.8:c.2459G>A MANE Select	ENSP00000373952.3:p.Ser820Asn
ENST00000389301.7:c.2459G>A	ENSP00000373952.3:p.Ser820Asn
ENST00000567205.1:c.143G>A	ENSP00000457027.1:p.Ser48Asn
ENST00000568369.5:c.2459G>A	ENSP00000456829.1:p.Ser820Asn
NM_000135.2:c.2459G>A , LRG_495t1:c.2459G>A	NP_000126.2:p.Ser820Asn
NM_001286167.1:c.2459G>A	NP_001273096.1:p.Ser820Asn
XM_005256294.3:c.2459G>A	XP_005256351.1:p.Ser820Asn
XM_011522945.1:c.2459G>A	XP_011521247.1:p.Ser820Asn
XM_011522946.1:c.1436G>A	XP_011521248.1:p.Ser479Asn
XM_011522947.1:c.1436G>A	XP_011521249.1:p.Ser479Asn
XR_933244.1:n.2502G>A
XR_933245.1:n.2502G>A
XR_933246.1:n.2502G>A
XR_933247.1:n.2502G>A
NM_000135.3:c.2459G>A	NP_000126.2:p.Ser820Asn
NM_001286167.2:c.2459G>A	NP_001273096.1:p.Ser820Asn
XM_005256294.4:c.2459G>A	XP_005256351.1:p.Ser820Asn
XM_011522945.2:c.2459G>A	XP_011521247.1:p.Ser820Asn
XM_011522946.3:c.1436G>A	XP_011521248.1:p.Ser479Asn
XM_011522947.2:c.1436G>A	XP_011521249.1:p.Ser479Asn
XM_017023044.2:c.2459G>A	XP_016878533.1:p.Ser820Asn
XM_017023045.1:c.2459G>A	XP_016878534.1:p.Ser820Asn
XM_024450189.1:c.1436G>A	XP_024305957.1:p.Ser479Asn
XR_001751866.1:n.2502G>A
XR_933244.2:n.2502G>A
XR_933245.2:n.2502G>A
XR_933247.2:n.2502G>A
NM_000135.4:c.2459G>A MANE Select	NP_000126.2:p.Ser820Asn
NM_001286167.3:c.2459G>A	NP_001273096.1:p.Ser820Asn