Canonical Allele Identifier: CA497186110

Gene: FANCA

Linked Data

• ClinVar Variation Id: 2164237
• ClinVar RCV Id: RCV003082050
• dbSNP Id: rs1019572431
• gnomAD v2: 16-89839743-C-T
• gnomAD v4: 16-89773335-C-T
• MyVariant Identifiers: chr16:g.89839743C>T (hg19) ; chr16:g.89773335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89773335C>T , CM000678.2:g.89773335C>T	GRCh38
NC_000016.9:g.89839743C>T , CM000678.1:g.89839743C>T	GRCh37
NC_000016.8:g.88367244C>T	NCBI36
NG_011706.1:g.48323G>A , LRG_495:g.48323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*140G>A	ENSP00000512522.1:n.*140G>A
ENST00000564475.6:c.1950G>A	ENSP00000454977.2:p.Leu650=
ENST00000567205.2:c.1950G>A	ENSP00000457027.2:p.Leu650=
ENST00000567284.7:n.1993G>A
ENST00000567510.2:c.446G>A	ENSP00000455969.1:n.446G>A
ENST00000568369.6:c.1950G>A	ENSP00000456829.1:p.Leu650=
ENST00000696274.1:n.1911G>A
ENST00000696275.1:c.*1185G>A	ENSP00000512517.1:n.*1185G>A
ENST00000696276.1:n.1993G>A
ENST00000696286.1:c.1950G>A	ENSP00000512523.1:p.Leu650=
ENST00000696287.1:c.1950G>A	ENSP00000512524.1:p.Leu650=
ENST00000696291.1:c.*1366G>A	ENSP00000512530.1:n.*1366G>A
ENST00000389301.8:c.1950G>A MANE Select	ENSP00000373952.3:p.Leu650=
ENST00000389301.7:c.1950G>A	ENSP00000373952.3:p.Leu650=
ENST00000567284.6:n.174G>A
ENST00000567510.1:c.446G>A	ENSP00000455969.1:n.446G>A
ENST00000568369.5:c.1950G>A	ENSP00000456829.1:p.Leu650=
NM_000135.2:c.1950G>A , LRG_495t1:c.1950G>A	NP_000126.2:p.Leu650=
NM_001286167.1:c.1950G>A	NP_001273096.1:p.Leu650=
XM_005256294.3:c.1950G>A	XP_005256351.1:p.Leu650=
XM_011522945.1:c.1950G>A	XP_011521247.1:p.Leu650=
XM_011522946.1:c.927G>A	XP_011521248.1:p.Leu309=
XM_011522947.1:c.927G>A	XP_011521249.1:p.Leu309=
XM_011522948.1:c.1950G>A	XP_011521250.1:p.Leu650=
XR_933244.1:n.1993G>A
XR_933245.1:n.1993G>A
XR_933246.1:n.1993G>A
XR_933247.1:n.1993G>A
NM_000135.3:c.1950G>A	NP_000126.2:p.Leu650=
NM_001286167.2:c.1950G>A	NP_001273096.1:p.Leu650=
XM_005256294.4:c.1950G>A	XP_005256351.1:p.Leu650=
XM_011522945.2:c.1950G>A	XP_011521247.1:p.Leu650=
XM_011522946.3:c.927G>A	XP_011521248.1:p.Leu309=
XM_011522947.2:c.927G>A	XP_011521249.1:p.Leu309=
XM_011522948.2:c.1950G>A	XP_011521250.1:p.Leu650=
XM_017023044.2:c.1950G>A	XP_016878533.1:p.Leu650=
XM_017023045.1:c.1950G>A	XP_016878534.1:p.Leu650=
XM_024450189.1:c.927G>A	XP_024305957.1:p.Leu309=
XR_001751866.1:n.1993G>A
XR_933244.2:n.1993G>A
XR_933245.2:n.1993G>A
XR_933247.2:n.1993G>A
NM_000135.4:c.1950G>A MANE Select	NP_000126.2:p.Leu650=
NM_001286167.3:c.1950G>A	NP_001273096.1:p.Leu650=