Canonical Allele Identifier: CA397438083

Gene: FANCA

Linked Data

• ClinVar Variation Id: 1986138
• ClinVar RCV Id: RCV002785962
• MyVariant Identifiers: chr16:g.89831335C>A (hg19) ; chr16:g.89764927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764927C>A , CM000678.2:g.89764927C>A	GRCh38
NC_000016.9:g.89831335C>A , CM000678.1:g.89831335C>A	GRCh37
NC_000016.8:g.88358836C>A	NCBI36
NG_011706.1:g.56731G>T , LRG_495:g.56731G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1235G>T	ENSP00000512522.1:n.*1235G>T
ENST00000564475.6:c.2741G>T	ENSP00000454977.2:p.Arg914Ile
ENST00000567510.2:c.1440G>T	ENSP00000455969.1:n.1440G>T
ENST00000568369.6:c.2741G>T	ENSP00000456829.1:p.Arg914Ile
ENST00000696274.1:n.2702G>T
ENST00000696275.1:c.*1976G>T	ENSP00000512517.1:n.*1976G>T
ENST00000696276.1:n.2784G>T
ENST00000696286.1:c.2741G>T	ENSP00000512523.1:p.Arg914Ile
ENST00000696287.1:c.2741G>T	ENSP00000512524.1:p.Arg914Ile
ENST00000696291.1:c.*2461G>T	ENSP00000512530.1:n.*2461G>T
ENST00000389301.8:c.2741G>T MANE Select	ENSP00000373952.3:p.Arg914Ile
ENST00000305699.15:n.113G>T
ENST00000389301.7:c.2741G>T	ENSP00000373952.3:p.Arg914Ile
ENST00000561660.1:c.118G>T
ENST00000563318.1:c.147G>T
ENST00000563510.5:c.21G>T
ENST00000567988.5:c.78G>T
ENST00000568369.5:c.2741G>T	ENSP00000456829.1:p.Arg914Ile
NM_000135.2:c.2741G>T , LRG_495t1:c.2741G>T	NP_000126.2:p.Arg914Ile
NM_001286167.1:c.2741G>T	NP_001273096.1:p.Arg914Ile
XM_005256294.3:c.2741G>T	XP_005256351.1:p.Arg914Ile
XM_011522945.1:c.2741G>T	XP_011521247.1:p.Arg914Ile
XM_011522946.1:c.1718G>T	XP_011521248.1:p.Arg573Ile
XM_011522947.1:c.1718G>T	XP_011521249.1:p.Arg573Ile
XR_933244.1:n.2784G>T
XR_933245.1:n.2784G>T
XR_933246.1:n.2784G>T
NM_000135.3:c.2741G>T	NP_000126.2:p.Arg914Ile
NM_001286167.2:c.2741G>T	NP_001273096.1:p.Arg914Ile
XM_005256294.4:c.2741G>T	XP_005256351.1:p.Arg914Ile
XM_011522945.2:c.2741G>T	XP_011521247.1:p.Arg914Ile
XM_011522946.3:c.1718G>T	XP_011521248.1:p.Arg573Ile
XM_011522947.2:c.1718G>T	XP_011521249.1:p.Arg573Ile
XM_017023044.2:c.2741G>T	XP_016878533.1:p.Arg914Ile
XM_017023045.1:c.2741G>T	XP_016878534.1:p.Arg914Ile
XM_024450189.1:c.1718G>T	XP_024305957.1:p.Arg573Ile
XR_001751866.1:n.2784G>T
XR_933244.2:n.2784G>T
XR_933245.2:n.2784G>T
XR_933247.2:n.2913G>T
NM_000135.4:c.2741G>T MANE Select	NP_000126.2:p.Arg914Ile
NM_001286167.3:c.2741G>T	NP_001273096.1:p.Arg914Ile