Canonical Allele Identifier: CA397486696
Gene: FANCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89749870G>C , CM000678.2:g.89749870G>C GRCh38
NC_000016.9:g.89816278G>C , CM000678.1:g.89816278G>C GRCh37
NC_000016.8:g.88343779G>C NCBI36
NG_011706.1:g.71788C>G , LRG_495:g.71788C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*1577C>G ENSP00000512522.1:n.*1577C>G
ENST00000564475.6:c.3099C>G ENSP00000454977.2:p.Asp1033Glu
ENST00000567510.2:c.1669C>G ENSP00000455969.1:n.1669C>G
ENST00000568369.6:c.3099C>G ENSP00000456829.1:p.Asp1033Glu
ENST00000568983.6:n.118C>G
ENST00000696274.1:n.3060C>G
ENST00000696275.1:c.*2334C>G ENSP00000512517.1:n.*2334C>G
ENST00000696286.1:c.3099C>G ENSP00000512523.1:p.Asp1033Glu
ENST00000696287.1:c.2970C>G ENSP00000512524.1:p.Asp990Glu
ENST00000696291.1:c.*2531C>G ENSP00000512530.1:n.*2531C>G
ENST00000389301.8:c.3099C>G MANE Select ENSP00000373952.3:p.Asp1033Glu
ENST00000305699.15:n.342C>G
ENST00000389301.7:c.3099C>G ENSP00000373952.3:p.Asp1033Glu
ENST00000561660.1:c.444-1103C>G
ENST00000563510.5:c.489C>G
ENST00000567988.5:c.351C>G
ENST00000568369.5:c.3099C>G ENSP00000456829.1:p.Asp1033Glu
NM_000135.2:c.3099C>G , LRG_495t1:c.3099C>G NP_000126.2:p.Asp1033Glu
NM_001286167.1:c.3099C>G NP_001273096.1:p.Asp1033Glu
XM_005256294.3:c.3099C>G XP_005256351.1:p.Asp1033Glu
XM_011522945.1:c.2970C>G XP_011521247.1:p.Asp990Glu
XM_011522946.1:c.2076C>G XP_011521248.1:p.Asp692Glu
XM_011522947.1:c.2076C>G XP_011521249.1:p.Asp692Glu
XR_933244.1:n.3142C>G
XR_933245.1:n.3142C>G
XR_933246.1:n.3110-1103C>G
NM_000135.3:c.3099C>G NP_000126.2:p.Asp1033Glu
NM_001286167.2:c.3099C>G NP_001273096.1:p.Asp1033Glu
XM_005256294.4:c.3099C>G XP_005256351.1:p.Asp1033Glu
XM_011522945.2:c.2970C>G XP_011521247.1:p.Asp990Glu
XM_011522946.3:c.2076C>G XP_011521248.1:p.Asp692Glu
XM_011522947.2:c.2076C>G XP_011521249.1:p.Asp692Glu
XM_017023044.2:c.2970C>G XP_016878533.1:p.Asp990Glu
XM_024450189.1:c.2076C>G XP_024305957.1:p.Asp692Glu
XR_001751866.1:n.3110-1103C>G
XR_933244.2:n.3142C>G
XR_933245.2:n.3142C>G
NM_000135.4:c.3099C>G MANE Select NP_000126.2:p.Asp1033Glu
NM_001286167.3:c.3099C>G NP_001273096.1:p.Asp1033Glu