Canonical Allele Identifier: CA358217
Gene: FANCA HGNC NCBI

Linked Data

ClinVar Variation Id: 224986
dbSNP Id: rs191943709

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89758617A>G , CM000678.2:g.89758617A>G GRCh38
NC_000016.9:g.89825025A>G , CM000678.1:g.89825025A>G GRCh37
NC_000016.8:g.88352526A>G NCBI36
NG_011706.1:g.63041T>C , LRG_495:g.63041T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000561667.2:c.*1459+3332T>C ENSP00000512522.1:n.*1459+3332T>C
ENST00000564475.6:c.2941T>C ENSP00000454977.2:p.Cys981Arg
ENST00000567510.2:c.1551+3332T>C ENSP00000455969.1:n.1551+3332T>C
ENST00000568369.6:c.2941T>C ENSP00000456829.1:p.Cys981Arg
ENST00000696274.1:n.2902T>C
ENST00000696275.1:c.*2176T>C ENSP00000512517.1:n.*2176T>C
ENST00000696286.1:c.2941T>C ENSP00000512523.1:p.Cys981Arg
ENST00000696287.1:c.2852+3332T>C ENSP00000512524.1:n.2852+3332T>C
ENST00000696291.1:c.*2498+6273T>C ENSP00000512530.1:n.*2498+6273T>C
ENST00000389301.8:c.2941T>C MANE Select ENSP00000373952.3:p.Cys981Arg
ENST00000305699.15:n.224+3332T>C
ENST00000389301.7:c.2941T>C ENSP00000373952.3:p.Cys981Arg
ENST00000561660.1:c.318T>C
ENST00000563318.1:c.503T>C
ENST00000563510.5:c.371+3332T>C
ENST00000567988.5:c.278T>C
ENST00000568369.5:c.2941T>C ENSP00000456829.1:p.Cys981Arg
NM_000135.2:c.2941T>C , LRG_495t1:c.2941T>C NP_000126.2:p.Cys981Arg
NM_001286167.1:c.2941T>C NP_001273096.1:p.Cys981Arg
XM_005256294.3:c.2941T>C XP_005256351.1:p.Cys981Arg
XM_011522945.1:c.2852+3332T>C XP_011521247.1:n.2852+3332T>C
XM_011522946.1:c.1918T>C XP_011521248.1:p.Cys640Arg
XM_011522947.1:c.1918T>C XP_011521249.1:p.Cys640Arg
XR_933244.1:n.2984T>C
XR_933245.1:n.2984T>C
XR_933246.1:n.2984T>C
NM_000135.3:c.2941T>C NP_000126.2:p.Cys981Arg
NM_001286167.2:c.2941T>C NP_001273096.1:p.Cys981Arg
XM_005256294.4:c.2941T>C XP_005256351.1:p.Cys981Arg
XM_011522945.2:c.2852+3332T>C XP_011521247.1:n.2852+3332T>C
XM_011522946.3:c.1918T>C XP_011521248.1:p.Cys640Arg
XM_011522947.2:c.1918T>C XP_011521249.1:p.Cys640Arg
XM_017023044.2:c.2852+3332T>C XP_016878533.1:n.2852+3332T>C
XM_024450189.1:c.1918T>C XP_024305957.1:p.Cys640Arg
XR_001751866.1:n.2984T>C
XR_933244.2:n.2984T>C
XR_933245.2:n.2984T>C
NM_000135.4:c.2941T>C MANE Select NP_000126.2:p.Cys981Arg
NM_001286167.3:c.2941T>C NP_001273096.1:p.Cys981Arg