Canonical Allele Identifier: CA397443878

Gene: FANCA

Linked Data

• ClinVar Variation Id: 435129
• ClinVar RCV Id: RCV000499975 ; RCV001380594
• dbSNP Id: rs1555547474
• MyVariant Identifiers: chr16:g.89836351C>A (hg19) ; chr16:g.89769943C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89769943C>A , CM000678.2:g.89769943C>A	GRCh38
NC_000016.9:g.89836351C>A , CM000678.1:g.89836351C>A	GRCh37
NC_000016.8:g.88363852C>A	NCBI36
NG_011706.1:g.51715G>T , LRG_495:g.51715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*892G>T	ENSP00000512522.1:n.*892G>T
ENST00000564475.6:c.2398G>T	ENSP00000454977.2:p.Glu800Ter
ENST00000567205.2:c.2398G>T	ENSP00000457027.2:p.Glu800Ter
ENST00000567510.2:c.1097G>T	ENSP00000455969.1:n.1097G>T
ENST00000568369.6:c.2398G>T	ENSP00000456829.1:p.Glu800Ter
ENST00000696274.1:n.2359G>T
ENST00000696275.1:c.*1633G>T	ENSP00000512517.1:n.*1633G>T
ENST00000696276.1:n.2441G>T
ENST00000696286.1:c.2398G>T	ENSP00000512523.1:p.Glu800Ter
ENST00000696287.1:c.2398G>T	ENSP00000512524.1:p.Glu800Ter
ENST00000696291.1:c.*2118G>T	ENSP00000512530.1:n.*2118G>T
ENST00000389301.8:c.2398G>T MANE Select	ENSP00000373952.3:p.Glu800Ter
ENST00000389301.7:c.2398G>T	ENSP00000373952.3:p.Glu800Ter
ENST00000561667.1:n.500G>T
ENST00000567205.1:c.82G>T	ENSP00000457027.1:p.Glu28Ter
ENST00000568369.5:c.2398G>T	ENSP00000456829.1:p.Glu800Ter
NM_000135.2:c.2398G>T , LRG_495t1:c.2398G>T	NP_000126.2:p.Glu800Ter
NM_001286167.1:c.2398G>T	NP_001273096.1:p.Glu800Ter
XM_005256294.3:c.2398G>T	XP_005256351.1:p.Glu800Ter
XM_011522945.1:c.2398G>T	XP_011521247.1:p.Glu800Ter
XM_011522946.1:c.1375G>T	XP_011521248.1:p.Glu459Ter
XM_011522947.1:c.1375G>T	XP_011521249.1:p.Glu459Ter
XR_933244.1:n.2441G>T
XR_933245.1:n.2441G>T
XR_933246.1:n.2441G>T
XR_933247.1:n.2441G>T
NM_000135.3:c.2398G>T	NP_000126.2:p.Glu800Ter
NM_001286167.2:c.2398G>T	NP_001273096.1:p.Glu800Ter
XM_005256294.4:c.2398G>T	XP_005256351.1:p.Glu800Ter
XM_011522945.2:c.2398G>T	XP_011521247.1:p.Glu800Ter
XM_011522946.3:c.1375G>T	XP_011521248.1:p.Glu459Ter
XM_011522947.2:c.1375G>T	XP_011521249.1:p.Glu459Ter
XM_017023044.2:c.2398G>T	XP_016878533.1:p.Glu800Ter
XM_017023045.1:c.2398G>T	XP_016878534.1:p.Glu800Ter
XM_024450189.1:c.1375G>T	XP_024305957.1:p.Glu459Ter
XR_001751866.1:n.2441G>T
XR_933244.2:n.2441G>T
XR_933245.2:n.2441G>T
XR_933247.2:n.2441G>T
NM_000135.4:c.2398G>T MANE Select	NP_000126.2:p.Glu800Ter
NM_001286167.3:c.2398G>T	NP_001273096.1:p.Glu800Ter