Canonical Allele Identifier: CA8252009

Gene: FANCA

Linked Data

• ClinVar Variation Id: 237037
• ClinVar RCV Id: RCV000253440 ; RCV000761973 ; RCV001083776 ; RCV001120466
• dbSNP Id: rs1800338
• ExAC: 16:89842220 T / C
• gnomAD v2: 16-89842220-T-C
• gnomAD v3: 16-89775812-T-C
• gnomAD v4: 16-89775812-T-C
• MyVariant Identifiers: chr16:g.89842220T>C (hg19) ; chr16:g.89775812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89775812T>C , CM000678.2:g.89775812T>C	GRCh38
NC_000016.9:g.89842220T>C , CM000678.1:g.89842220T>C	GRCh37
NC_000016.8:g.88369721T>C	NCBI36
NG_011706.1:g.45846A>G , LRG_495:g.45846A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*20A>G	ENSP00000512522.1:n.*20A>G
ENST00000564475.6:c.1830A>G	ENSP00000454977.2:p.Ala610=
ENST00000567205.2:c.1830A>G	ENSP00000457027.2:p.Ala610=
ENST00000567284.7:n.1873A>G
ENST00000567510.2:c.326A>G	ENSP00000455969.1:n.326A>G
ENST00000568369.6:c.1830A>G	ENSP00000456829.1:p.Ala610=
ENST00000696274.1:n.1791A>G
ENST00000696275.1:c.*1065A>G	ENSP00000512517.1:n.*1065A>G
ENST00000696276.1:n.1873A>G
ENST00000696286.1:c.1830A>G	ENSP00000512523.1:p.Ala610=
ENST00000696287.1:c.1830A>G	ENSP00000512524.1:p.Ala610=
ENST00000696291.1:c.*1246A>G	ENSP00000512530.1:n.*1246A>G
ENST00000389301.8:c.1830A>G MANE Select	ENSP00000373952.3:p.Ala610=
ENST00000389301.7:c.1830A>G	ENSP00000373952.3:p.Ala610=
ENST00000567284.6:n.54A>G
ENST00000567510.1:c.326A>G	ENSP00000455969.1:n.326A>G
ENST00000568369.5:c.1830A>G	ENSP00000456829.1:p.Ala610=
NM_000135.2:c.1830A>G , LRG_495t1:c.1830A>G	NP_000126.2:p.Ala610=
NM_001286167.1:c.1830A>G	NP_001273096.1:p.Ala610=
XM_005256294.3:c.1830A>G	XP_005256351.1:p.Ala610=
XM_011522945.1:c.1830A>G	XP_011521247.1:p.Ala610=
XM_011522946.1:c.807A>G	XP_011521248.1:p.Ala269=
XM_011522947.1:c.807A>G	XP_011521249.1:p.Ala269=
XM_011522948.1:c.1830A>G	XP_011521250.1:p.Ala610=
XR_933244.1:n.1873A>G
XR_933245.1:n.1873A>G
XR_933246.1:n.1873A>G
XR_933247.1:n.1873A>G
NM_000135.3:c.1830A>G	NP_000126.2:p.Ala610=
NM_001286167.2:c.1830A>G	NP_001273096.1:p.Ala610=
XM_005256294.4:c.1830A>G	XP_005256351.1:p.Ala610=
XM_011522945.2:c.1830A>G	XP_011521247.1:p.Ala610=
XM_011522946.3:c.807A>G	XP_011521248.1:p.Ala269=
XM_011522947.2:c.807A>G	XP_011521249.1:p.Ala269=
XM_011522948.2:c.1830A>G	XP_011521250.1:p.Ala610=
XM_017023044.2:c.1830A>G	XP_016878533.1:p.Ala610=
XM_017023045.1:c.1830A>G	XP_016878534.1:p.Ala610=
XM_024450189.1:c.807A>G	XP_024305957.1:p.Ala269=
XR_001751866.1:n.1873A>G
XR_933244.2:n.1873A>G
XR_933245.2:n.1873A>G
XR_933247.2:n.1873A>G
NM_000135.4:c.1830A>G MANE Select	NP_000126.2:p.Ala610=
NM_001286167.3:c.1830A>G	NP_001273096.1:p.Ala610=