Canonical Allele Identifier: CA159299
Gene: FANCA HGNC NCBI

Linked Data

ClinVar Variation Id: 134263
dbSNP Id: rs140823801

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89758581G>T , CM000678.2:g.89758581G>T GRCh38
NC_000016.9:g.89824989G>T , CM000678.1:g.89824989G>T GRCh37
NC_000016.8:g.88352490G>T NCBI36
NG_011706.1:g.63077C>A , LRG_495:g.63077C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*1459+3368C>A ENSP00000512522.1:n.*1459+3368C>A
ENST00000564475.6:c.2977C>A ENSP00000454977.2:p.Gln993Lys
ENST00000567510.2:c.1551+3368C>A ENSP00000455969.1:n.1551+3368C>A
ENST00000568369.6:c.2977C>A ENSP00000456829.1:p.Gln993Lys
ENST00000696274.1:n.2938C>A
ENST00000696275.1:c.*2212C>A ENSP00000512517.1:n.*2212C>A
ENST00000696286.1:c.2977C>A ENSP00000512523.1:p.Gln993Lys
ENST00000696287.1:c.2852+3368C>A ENSP00000512524.1:n.2852+3368C>A
ENST00000696291.1:c.*2498+6309C>A ENSP00000512530.1:n.*2498+6309C>A
ENST00000389301.8:c.2977C>A MANE Select ENSP00000373952.3:p.Gln993Lys
ENST00000305699.15:n.224+3368C>A
ENST00000389301.7:c.2977C>A ENSP00000373952.3:p.Gln993Lys
ENST00000561660.1:c.354C>A
ENST00000563318.1:c.539C>A
ENST00000563510.5:c.371+3368C>A
ENST00000567988.5:c.314C>A
ENST00000568369.5:c.2977C>A ENSP00000456829.1:p.Gln993Lys
NM_000135.2:c.2977C>A , LRG_495t1:c.2977C>A NP_000126.2:p.Gln993Lys
NM_001286167.1:c.2977C>A NP_001273096.1:p.Gln993Lys
XM_005256294.3:c.2977C>A XP_005256351.1:p.Gln993Lys
XM_011522945.1:c.2852+3368C>A XP_011521247.1:n.2852+3368C>A
XM_011522946.1:c.1954C>A XP_011521248.1:p.Gln652Lys
XM_011522947.1:c.1954C>A XP_011521249.1:p.Gln652Lys
XR_933244.1:n.3020C>A
XR_933245.1:n.3020C>A
XR_933246.1:n.3020C>A
NM_000135.3:c.2977C>A NP_000126.2:p.Gln993Lys
NM_001286167.2:c.2977C>A NP_001273096.1:p.Gln993Lys
XM_005256294.4:c.2977C>A XP_005256351.1:p.Gln993Lys
XM_011522945.2:c.2852+3368C>A XP_011521247.1:n.2852+3368C>A
XM_011522946.3:c.1954C>A XP_011521248.1:p.Gln652Lys
XM_011522947.2:c.1954C>A XP_011521249.1:p.Gln652Lys
XM_017023044.2:c.2852+3368C>A XP_016878533.1:n.2852+3368C>A
XM_024450189.1:c.1954C>A XP_024305957.1:p.Gln652Lys
XR_001751866.1:n.3020C>A
XR_933244.2:n.3020C>A
XR_933245.2:n.3020C>A
NM_000135.4:c.2977C>A MANE Select NP_000126.2:p.Gln993Lys
NM_001286167.3:c.2977C>A NP_001273096.1:p.Gln993Lys