Canonical Allele Identifier: CA8251431

Gene: FANCA

Linked Data

• ClinVar Variation Id: 526389
• ClinVar RCV Id: RCV002269293 ; RCV002492948
• dbSNP Id: rs773070418
• ExAC: 16:89825027 G / A
• gnomAD v2: 16-89825027-G-A
• gnomAD v3: 16-89758619-G-A
• gnomAD v4: 16-89758619-G-A
• MyVariant Identifiers: chr16:g.89825027G>A (hg19) ; chr16:g.89758619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89758619G>A , CM000678.2:g.89758619G>A	GRCh38
NC_000016.9:g.89825027G>A , CM000678.1:g.89825027G>A	GRCh37
NC_000016.8:g.88352528G>A	NCBI36
NG_011706.1:g.63039C>T , LRG_495:g.63039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*1459+3330C>T	ENSP00000512522.1:n.*1459+3330C>T
ENST00000564475.6:c.2939C>T	ENSP00000454977.2:p.Ala980Val
ENST00000567510.2:c.1551+3330C>T	ENSP00000455969.1:n.1551+3330C>T
ENST00000568369.6:c.2939C>T	ENSP00000456829.1:p.Ala980Val
ENST00000696274.1:n.2900C>T
ENST00000696275.1:c.*2174C>T	ENSP00000512517.1:n.*2174C>T
ENST00000696286.1:c.2939C>T	ENSP00000512523.1:p.Ala980Val
ENST00000696287.1:c.2852+3330C>T	ENSP00000512524.1:n.2852+3330C>T
ENST00000696291.1:c.*2498+6271C>T	ENSP00000512530.1:n.*2498+6271C>T
ENST00000389301.8:c.2939C>T MANE Select	ENSP00000373952.3:p.Ala980Val
ENST00000305699.15:n.224+3330C>T
ENST00000389301.7:c.2939C>T	ENSP00000373952.3:p.Ala980Val
ENST00000561660.1:c.316C>T
ENST00000563318.1:c.501C>T
ENST00000563510.5:c.371+3330C>T
ENST00000567988.5:c.276C>T
ENST00000568369.5:c.2939C>T	ENSP00000456829.1:p.Ala980Val
NM_000135.2:c.2939C>T , LRG_495t1:c.2939C>T	NP_000126.2:p.Ala980Val
NM_001286167.1:c.2939C>T	NP_001273096.1:p.Ala980Val
XM_005256294.3:c.2939C>T	XP_005256351.1:p.Ala980Val
XM_011522945.1:c.2852+3330C>T	XP_011521247.1:n.2852+3330C>T
XM_011522946.1:c.1916C>T	XP_011521248.1:p.Ala639Val
XM_011522947.1:c.1916C>T	XP_011521249.1:p.Ala639Val
XR_933244.1:n.2982C>T
XR_933245.1:n.2982C>T
XR_933246.1:n.2982C>T
NM_000135.3:c.2939C>T	NP_000126.2:p.Ala980Val
NM_001286167.2:c.2939C>T	NP_001273096.1:p.Ala980Val
XM_005256294.4:c.2939C>T	XP_005256351.1:p.Ala980Val
XM_011522945.2:c.2852+3330C>T	XP_011521247.1:n.2852+3330C>T
XM_011522946.3:c.1916C>T	XP_011521248.1:p.Ala639Val
XM_011522947.2:c.1916C>T	XP_011521249.1:p.Ala639Val
XM_017023044.2:c.2852+3330C>T	XP_016878533.1:n.2852+3330C>T
XM_024450189.1:c.1916C>T	XP_024305957.1:p.Ala639Val
XR_001751866.1:n.2982C>T
XR_933244.2:n.2982C>T
XR_933245.2:n.2982C>T
NM_000135.4:c.2939C>T MANE Select	NP_000126.2:p.Ala980Val
NM_001286167.3:c.2939C>T	NP_001273096.1:p.Ala980Val