Canonical Allele Identifier: CA10644645

Gene: FANCA

Linked Data

• ClinVar Variation Id: 321348
• ClinVar RCV Id: RCV000388326 ; RCV001458727 ; RCV003151027
• dbSNP Id: rs776301232
• gnomAD v4: 16-89770157-G-A
• MyVariant Identifiers: chr16:g.89836565G>A (hg19) ; chr16:g.89770157G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89770157G>A , CM000678.2:g.89770157G>A	GRCh38
NC_000016.9:g.89836565G>A , CM000678.1:g.89836565G>A	GRCh37
NC_000016.8:g.88364066G>A	NCBI36
NG_011706.1:g.51501C>T , LRG_495:g.51501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*810+9C>T	ENSP00000512522.1:n.*810+9C>T
ENST00000564475.6:c.2316+9C>T	ENSP00000454977.2:n.2316+9C>T
ENST00000567205.2:c.2316+9C>T	ENSP00000457027.2:n.2316+9C>T
ENST00000567510.2:c.1015+9C>T	ENSP00000455969.1:n.1015+9C>T
ENST00000568369.6:c.2316+9C>T	ENSP00000456829.1:n.2316+9C>T
ENST00000696274.1:n.2277+9C>T
ENST00000696275.1:c.*1551+9C>T	ENSP00000512517.1:n.*1551+9C>T
ENST00000696276.1:n.2359+9C>T
ENST00000696286.1:c.2316+9C>T	ENSP00000512523.1:n.2316+9C>T
ENST00000696287.1:c.2316+9C>T	ENSP00000512524.1:n.2316+9C>T
ENST00000696291.1:c.*2036+9C>T	ENSP00000512530.1:n.*2036+9C>T
ENST00000389301.8:c.2316+9C>T MANE Select	ENSP00000373952.3:n.2316+9C>T
ENST00000389301.7:c.2316+9C>T	ENSP00000373952.3:n.2316+9C>T
ENST00000561667.1:n.418+9C>T
ENST00000568369.5:c.2316+9C>T	ENSP00000456829.1:n.2316+9C>T
NM_000135.2:c.2316+9C>T , LRG_495t1:c.2316+9C>T	NP_000126.2:n.2316+9C>T
NM_001286167.1:c.2316+9C>T	NP_001273096.1:n.2316+9C>T
XM_005256294.3:c.2316+9C>T	XP_005256351.1:n.2316+9C>T
XM_011522945.1:c.2316+9C>T	XP_011521247.1:n.2316+9C>T
XM_011522946.1:c.1293+9C>T	XP_011521248.1:n.1293+9C>T
XM_011522947.1:c.1293+9C>T	XP_011521249.1:n.1293+9C>T
XR_933244.1:n.2359+9C>T
XR_933245.1:n.2359+9C>T
XR_933246.1:n.2359+9C>T
XR_933247.1:n.2359+9C>T
NM_000135.3:c.2316+9C>T	NP_000126.2:n.2316+9C>T
NM_001286167.2:c.2316+9C>T	NP_001273096.1:n.2316+9C>T
XM_005256294.4:c.2316+9C>T	XP_005256351.1:n.2316+9C>T
XM_011522945.2:c.2316+9C>T	XP_011521247.1:n.2316+9C>T
XM_011522946.3:c.1293+9C>T	XP_011521248.1:n.1293+9C>T
XM_011522947.2:c.1293+9C>T	XP_011521249.1:n.1293+9C>T
XM_017023044.2:c.2316+9C>T	XP_016878533.1:n.2316+9C>T
XM_017023045.1:c.2316+9C>T	XP_016878534.1:n.2316+9C>T
XM_024450189.1:c.1293+9C>T	XP_024305957.1:n.1293+9C>T
XR_001751866.1:n.2359+9C>T
XR_933244.2:n.2359+9C>T
XR_933245.2:n.2359+9C>T
XR_933247.2:n.2359+9C>T
NM_000135.4:c.2316+9C>T MANE Select	NP_000126.2:n.2316+9C>T
NM_001286167.3:c.2316+9C>T	NP_001273096.1:n.2316+9C>T