Canonical Allele Identifier: CA397438107
Gene: FANCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89764931G>T , CM000678.2:g.89764931G>T GRCh38
NC_000016.9:g.89831339G>T , CM000678.1:g.89831339G>T GRCh37
NC_000016.8:g.88358840G>T NCBI36
NG_011706.1:g.56727C>A , LRG_495:g.56727C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*1231C>A ENSP00000512522.1:n.*1231C>A
ENST00000564475.6:c.2737C>A ENSP00000454977.2:p.His913Asn
ENST00000567510.2:c.1436C>A ENSP00000455969.1:n.1436C>A
ENST00000568369.6:c.2737C>A ENSP00000456829.1:p.His913Asn
ENST00000696274.1:n.2698C>A
ENST00000696275.1:c.*1972C>A ENSP00000512517.1:n.*1972C>A
ENST00000696276.1:n.2780C>A
ENST00000696286.1:c.2737C>A ENSP00000512523.1:p.His913Asn
ENST00000696287.1:c.2737C>A ENSP00000512524.1:p.His913Asn
ENST00000696291.1:c.*2457C>A ENSP00000512530.1:n.*2457C>A
ENST00000389301.8:c.2737C>A MANE Select ENSP00000373952.3:p.His913Asn
ENST00000305699.15:n.109C>A
ENST00000389301.7:c.2737C>A ENSP00000373952.3:p.His913Asn
ENST00000561660.1:c.114C>A
ENST00000563318.1:c.143C>A
ENST00000563510.5:c.17C>A
ENST00000567988.5:c.74C>A
ENST00000568369.5:c.2737C>A ENSP00000456829.1:p.His913Asn
NM_000135.2:c.2737C>A , LRG_495t1:c.2737C>A NP_000126.2:p.His913Asn
NM_001286167.1:c.2737C>A NP_001273096.1:p.His913Asn
XM_005256294.3:c.2737C>A XP_005256351.1:p.His913Asn
XM_011522945.1:c.2737C>A XP_011521247.1:p.His913Asn
XM_011522946.1:c.1714C>A XP_011521248.1:p.His572Asn
XM_011522947.1:c.1714C>A XP_011521249.1:p.His572Asn
XR_933244.1:n.2780C>A
XR_933245.1:n.2780C>A
XR_933246.1:n.2780C>A
NM_000135.3:c.2737C>A NP_000126.2:p.His913Asn
NM_001286167.2:c.2737C>A NP_001273096.1:p.His913Asn
XM_005256294.4:c.2737C>A XP_005256351.1:p.His913Asn
XM_011522945.2:c.2737C>A XP_011521247.1:p.His913Asn
XM_011522946.3:c.1714C>A XP_011521248.1:p.His572Asn
XM_011522947.2:c.1714C>A XP_011521249.1:p.His572Asn
XM_017023044.2:c.2737C>A XP_016878533.1:p.His913Asn
XM_017023045.1:c.2737C>A XP_016878534.1:p.His913Asn
XM_024450189.1:c.1714C>A XP_024305957.1:p.His572Asn
XR_001751866.1:n.2780C>A
XR_933244.2:n.2780C>A
XR_933245.2:n.2780C>A
XR_933247.2:n.2909C>A
NM_000135.4:c.2737C>A MANE Select NP_000126.2:p.His913Asn
NM_001286167.3:c.2737C>A NP_001273096.1:p.His913Asn