Canonical Allele Identifier: CA286608257

Gene: FANCA

Linked Data

• ClinVar Variation Id: 1053297
• ClinVar RCV Id: RCV001361622
• dbSNP Id: rs968636087
• gnomAD v4: 16-89810995-G-T
• MyVariant Identifiers: chr16:g.89877403G>T (hg19) ; chr16:g.89810995G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89810995G>T , CM000678.2:g.89810995G>T	GRCh38
NC_000016.9:g.89877403G>T , CM000678.1:g.89877403G>T	GRCh37
NC_000016.8:g.88404904G>T	NCBI36
NG_011706.1:g.10663C>A , LRG_495:g.10663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.360C>A	ENSP00000512522.1:p.Ser120Arg
ENST00000563767.2:n.195C>A
ENST00000564475.6:c.360C>A	ENSP00000454977.2:p.Ser120Arg
ENST00000567205.2:c.360C>A	ENSP00000457027.2:p.Ser120Arg
ENST00000567284.7:n.403C>A
ENST00000567621.6:c.360C>A	ENSP00000456762.2:p.Ser120Arg
ENST00000568369.6:c.360C>A	ENSP00000456829.1:p.Ser120Arg
ENST00000696275.1:c.360C>A	ENSP00000512517.1:p.Ser120Arg
ENST00000696276.1:n.403C>A
ENST00000696277.1:c.360C>A	ENSP00000512518.1:p.Ser120Arg
ENST00000696286.1:c.360C>A	ENSP00000512523.1:p.Ser120Arg
ENST00000696287.1:c.360C>A	ENSP00000512524.1:p.Ser120Arg
ENST00000696288.1:c.391C>A	ENSP00000512525.1:n.391C>A
ENST00000696291.1:c.360C>A	ENSP00000512530.1:p.Ser120Arg
ENST00000696292.1:c.225C>A	ENSP00000512531.1:n.225C>A
ENST00000696293.1:c.217C>A	ENSP00000512532.1:n.217C>A
ENST00000696294.1:c.195C>A	ENSP00000512533.1:p.Ser65Arg
ENST00000696295.1:c.195C>A	ENSP00000512534.1:p.Ser65Arg
ENST00000696296.1:c.195C>A	ENSP00000512535.1:p.Ser65Arg
ENST00000389301.8:c.360C>A MANE Select	ENSP00000373952.3:p.Ser120Arg
ENST00000389301.7:c.360C>A	ENSP00000373952.3:p.Ser120Arg
ENST00000389302.7:c.360C>A	ENSP00000373953.3:p.Ser120Arg
ENST00000534992.5:c.360C>A	ENSP00000443675.1:p.Ser120Arg
ENST00000543736.5:c.360C>A	ENSP00000443409.1:p.Ser120Arg
ENST00000563513.1:c.*1C>A	ENSP00000455946.1:n.*1C>A
ENST00000563673.5:c.360C>A	ENSP00000456443.1:p.Ser120Arg
ENST00000565582.5:c.273C>A	ENSP00000456722.1:p.Ser91Arg
ENST00000566889.5:n.942C>A
ENST00000567883.5:n.353C>A
ENST00000567943.1:c.*340C>A	ENSP00000455941.1:n.*340C>A
ENST00000568369.5:c.360C>A	ENSP00000456829.1:p.Ser120Arg
NM_000135.2:c.360C>A , LRG_495t1:c.360C>A	NP_000126.2:p.Ser120Arg
NM_001018112.1:c.360C>A	NP_001018122.1:p.Ser120Arg
NM_001286167.1:c.360C>A	NP_001273096.1:p.Ser120Arg
XM_005256294.3:c.360C>A	XP_005256351.1:p.Ser120Arg
XM_011522945.1:c.360C>A	XP_011521247.1:p.Ser120Arg
XM_011522948.1:c.360C>A	XP_011521250.1:p.Ser120Arg
XR_933244.1:n.403C>A
XR_933245.1:n.403C>A
XR_933246.1:n.403C>A
XR_933247.1:n.403C>A
NM_000135.3:c.360C>A	NP_000126.2:p.Ser120Arg
NM_001018112.2:c.360C>A	NP_001018122.1:p.Ser120Arg
NM_001286167.2:c.360C>A	NP_001273096.1:p.Ser120Arg
NM_001351830.1:c.360C>A	NP_001338759.1:p.Ser120Arg
XM_005256294.4:c.360C>A	XP_005256351.1:p.Ser120Arg
XM_011522945.2:c.360C>A	XP_011521247.1:p.Ser120Arg
XM_011522946.3:c.-793C>A	XP_011521248.1:n.-793C>A
XM_011522948.2:c.360C>A	XP_011521250.1:p.Ser120Arg
XM_017023044.2:c.360C>A	XP_016878533.1:p.Ser120Arg
XM_017023045.1:c.360C>A	XP_016878534.1:p.Ser120Arg
XM_017023046.1:c.360C>A	XP_016878535.1:p.Ser120Arg
XR_001751866.1:n.403C>A
XR_001751867.1:n.403C>A
XR_001751868.2:n.403C>A
XR_002957793.1:n.403C>A
XR_933244.2:n.403C>A
XR_933245.2:n.403C>A
XR_933247.2:n.403C>A
NM_000135.4:c.360C>A MANE Select	NP_000126.2:p.Ser120Arg
NM_001018112.3:c.360C>A	NP_001018122.1:p.Ser120Arg
NM_001286167.3:c.360C>A	NP_001273096.1:p.Ser120Arg
NM_001351830.2:c.360C>A	NP_001338759.1:p.Ser120Arg