Canonical Allele Identifier: CA16041804
Gene: FANCA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370361
ClinVar RCV Id: RCV000409455
dbSNP Id: rs1057516430

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89811060G>A , CM000678.2:g.89811060G>A GRCh38
NC_000016.9:g.89877468G>A , CM000678.1:g.89877468G>A GRCh37
NC_000016.8:g.88404969G>A NCBI36
NG_011706.1:g.10598C>T , LRG_495:g.10598C>T

Transcript Alleles

HGVS Amino-acid change
NM_000135.2:c.295C>T , LRG_495t1:c.295C>T NP_000126.2:p.Gln99Ter
NM_001018112.1:c.295C>T VV NP_001018122.1:p.Gln99Ter
NM_001286167.1:c.295C>T VV NP_001273096.1:p.Gln99Ter
XM_005256294.3:c.295C>T XP_005256351.1:p.Gln99Ter
XM_011522945.1:c.295C>T XP_011521247.1:p.Gln99Ter
XM_011522948.1:c.295C>T XP_011521250.1:p.Gln99Ter
XR_933244.1:n.338C>T
XR_933245.1:n.338C>T
XR_933246.1:n.338C>T
XR_933247.1:n.338C>T
NM_000135.3:c.295C>T VV
NM_001018112.2:c.295C>T VV
NM_001286167.2:c.295C>T VV
NM_001351830.1:c.295C>T VV NP_001338759.1:p.Gln99Ter
XM_005256294.4:c.295C>T
XM_011522945.2:c.295C>T
XM_011522946.3:c.-858C>T
XM_011522948.2:c.295C>T
XM_017023044.2:c.295C>T XP_016878533.1:p.Gln99Ter
XM_017023045.1:c.295C>T XP_016878534.1:p.Gln99Ter
XM_017023046.1:c.295C>T XP_016878535.1:p.Gln99Ter
XR_001751866.1:n.338C>T
XR_001751867.1:n.338C>T
XR_001751868.2:n.338C>T
XR_002957793.1:n.338C>T
XR_933244.2:n.338C>T
XR_933245.2:n.338C>T
XR_933247.2:n.338C>T
NM_000135.4:c.295C>T VV MANE Preferred
ENST00000389301.7:c.295C>T ENSP00000373952.3:p.Gln99Ter
ENST00000389302.7:c.295C>T ENSP00000373953.3:p.Gln99Ter
ENST00000534992.5:c.295C>T ENSP00000443675.1:p.Gln99Ter
ENST00000543736.5:c.295C>T ENSP00000443409.1:p.Gln99Ter
ENST00000563513.1:c.284-3C>T ENSP00000455946.1:p.=
ENST00000563673.5:c.295C>T ENSP00000456443.1:p.Gln99Ter
ENST00000565582.5:n.208C>T ENSP00000456722.1:p.Gln70Ter
ENST00000566889.5:n.877C>T
ENST00000567883.5:n.288C>T
ENST00000567943.1:c.*275C>T ENSP00000455941.1:p.=
ENST00000568369.5:c.295C>T ENSP00000456829.1:p.Gln99Ter