Canonical Allele Identifier: CA8251579

Gene: FANCA

Linked Data

• ClinVar Variation Id: 1098221
• ClinVar RCV Id: RCV001420066
• dbSNP Id: rs781543214
• ExAC: 16:89831331 G / T
• gnomAD v2: 16-89831331-G-T
• gnomAD v4: 16-89764923-G-T
• MyVariant Identifiers: chr16:g.89831331G>T (hg19) ; chr16:g.89764923G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764923G>T , CM000678.2:g.89764923G>T	GRCh38
NC_000016.9:g.89831331G>T , CM000678.1:g.89831331G>T	GRCh37
NC_000016.8:g.88358832G>T	NCBI36
NG_011706.1:g.56735C>A , LRG_495:g.56735C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1239C>A	ENSP00000512522.1:n.*1239C>A
ENST00000564475.6:c.2745C>A	ENSP00000454977.2:p.Thr915=
ENST00000567510.2:c.1444C>A	ENSP00000455969.1:n.1444C>A
ENST00000568369.6:c.2745C>A	ENSP00000456829.1:p.Thr915=
ENST00000696274.1:n.2706C>A
ENST00000696275.1:c.*1980C>A	ENSP00000512517.1:n.*1980C>A
ENST00000696276.1:n.2788C>A
ENST00000696286.1:c.2745C>A	ENSP00000512523.1:p.Thr915=
ENST00000696287.1:c.2745C>A	ENSP00000512524.1:p.Thr915=
ENST00000696291.1:c.*2465C>A	ENSP00000512530.1:n.*2465C>A
ENST00000389301.8:c.2745C>A MANE Select	ENSP00000373952.3:p.Thr915=
ENST00000305699.15:n.117C>A
ENST00000389301.7:c.2745C>A	ENSP00000373952.3:p.Thr915=
ENST00000561660.1:c.122C>A
ENST00000563318.1:c.151C>A
ENST00000563510.5:c.25C>A
ENST00000567988.5:c.82C>A
ENST00000568369.5:c.2745C>A	ENSP00000456829.1:p.Thr915=
NM_000135.2:c.2745C>A , LRG_495t1:c.2745C>A	NP_000126.2:p.Thr915=
NM_001286167.1:c.2745C>A	NP_001273096.1:p.Thr915=
XM_005256294.3:c.2745C>A	XP_005256351.1:p.Thr915=
XM_011522945.1:c.2745C>A	XP_011521247.1:p.Thr915=
XM_011522946.1:c.1722C>A	XP_011521248.1:p.Thr574=
XM_011522947.1:c.1722C>A	XP_011521249.1:p.Thr574=
XR_933244.1:n.2788C>A
XR_933245.1:n.2788C>A
XR_933246.1:n.2788C>A
NM_000135.3:c.2745C>A	NP_000126.2:p.Thr915=
NM_001286167.2:c.2745C>A	NP_001273096.1:p.Thr915=
XM_005256294.4:c.2745C>A	XP_005256351.1:p.Thr915=
XM_011522945.2:c.2745C>A	XP_011521247.1:p.Thr915=
XM_011522946.3:c.1722C>A	XP_011521248.1:p.Thr574=
XM_011522947.2:c.1722C>A	XP_011521249.1:p.Thr574=
XM_017023044.2:c.2745C>A	XP_016878533.1:p.Thr915=
XM_017023045.1:c.2745C>A	XP_016878534.1:p.Thr915=
XM_024450189.1:c.1722C>A	XP_024305957.1:p.Thr574=
XR_001751866.1:n.2788C>A
XR_933244.2:n.2788C>A
XR_933245.2:n.2788C>A
XR_933247.2:n.2917C>A
NM_000135.4:c.2745C>A MANE Select	NP_000126.2:p.Thr915=
NM_001286167.3:c.2745C>A	NP_001273096.1:p.Thr915=