Canonical Allele Identifier: CA8251151

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89746663C>T , CM000678.2:g.89746663C>T	GRCh38
NC_000016.9:g.89813071C>T , CM000678.1:g.89813071C>T	GRCh37
NC_000016.8:g.88340572C>T	NCBI36
NG_011706.1:g.74995G>A , LRG_495:g.74995G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3434G>A MANE Select	NP_000126.2:p.Ser1145Asn
ENST00000389301.8:c.3434G>A MANE Select	ENSP00000373952.3:p.Ser1145Asn
NM_000135.2:c.3434G>A , LRG_495t1:c.3434G>A	NP_000126.2:p.Ser1145Asn
NM_000135.3:c.3434G>A	NP_000126.2:p.Ser1145Asn
NM_001286167.1:c.3434G>A	NP_001273096.1:p.Ser1145Asn
NM_001286167.2:c.3434G>A	NP_001273096.1:p.Ser1145Asn
NM_001286167.3:c.3434G>A	NP_001273096.1:p.Ser1145Asn
ENST00000305699.15:n.677G>A
ENST00000389301.7:c.3434G>A	ENSP00000373952.3:p.Ser1145Asn
ENST00000561660.1:c.638G>A
ENST00000561667.2:c.*1912G>A	ENSP00000512522.1:n.*1912G>A
ENST00000564475.6:c.3434G>A	ENSP00000454977.2:p.Ser1145Asn
ENST00000567510.2:c.2004G>A	ENSP00000455969.1:n.2004G>A
ENST00000567988.5:c.686G>A
ENST00000568369.5:c.3434G>A	ENSP00000456829.1:p.Ser1145Asn
ENST00000568369.6:c.3434G>A	ENSP00000456829.1:p.Ser1145Asn
ENST00000568626.1:c.282G>A
ENST00000568983.5:n.262G>A
ENST00000568983.6:n.453G>A
ENST00000696274.1:n.3395G>A
ENST00000696275.1:c.*2669G>A	ENSP00000512517.1:n.*2669G>A
ENST00000696286.1:c.3434G>A	ENSP00000512523.1:p.Ser1145Asn
ENST00000696287.1:c.3305G>A	ENSP00000512524.1:p.Ser1102Asn
ENST00000696291.1:c.*2866G>A	ENSP00000512530.1:n.*2866G>A
XM_005256294.3:c.3434G>A	XP_005256351.1:p.Ser1145Asn
XM_005256294.4:c.3434G>A	XP_005256351.1:p.Ser1145Asn
XM_011522945.1:c.3305G>A	XP_011521247.1:p.Ser1102Asn
XM_011522945.2:c.3305G>A	XP_011521247.1:p.Ser1102Asn
XM_011522946.1:c.2411G>A	XP_011521248.1:p.Ser804Asn
XM_011522946.3:c.2411G>A	XP_011521248.1:p.Ser804Asn
XM_011522947.1:c.2411G>A	XP_011521249.1:p.Ser804Asn
XM_011522947.2:c.2411G>A	XP_011521249.1:p.Ser804Asn
XM_017023044.2:c.3305G>A	XP_016878533.1:p.Ser1102Asn
XM_024450189.1:c.2411G>A	XP_024305957.1:p.Ser804Asn
XR_001751866.1:n.3304G>A
XR_933244.1:n.3477G>A
XR_933244.2:n.3477G>A
XR_933245.1:n.3477G>A
XR_933245.2:n.3477G>A
XR_933246.1:n.3304G>A