Canonical Allele Identifier: CA397486523

Gene: FANCA

Linked Data

• ClinVar Variation Id: 526315
• ClinVar RCV Id: RCV000630824 ; RCV001256513
• dbSNP Id: rs1166286386
• gnomAD v4: 16-89749781-C-T
• MyVariant Identifiers: chr16:g.89816189C>T (hg19) ; chr16:g.89749781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89749781C>T , CM000678.2:g.89749781C>T	GRCh38
NC_000016.9:g.89816189C>T , CM000678.1:g.89816189C>T	GRCh37
NC_000016.8:g.88343690C>T	NCBI36
NG_011706.1:g.71877G>A , LRG_495:g.71877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1666G>A	ENSP00000512522.1:n.*1666G>A
ENST00000564475.6:c.3188G>A	ENSP00000454977.2:p.Trp1063Ter
ENST00000567510.2:c.1758G>A	ENSP00000455969.1:n.1758G>A
ENST00000568369.6:c.3188G>A	ENSP00000456829.1:p.Trp1063Ter
ENST00000568983.6:n.207G>A
ENST00000696274.1:n.3149G>A
ENST00000696275.1:c.*2423G>A	ENSP00000512517.1:n.*2423G>A
ENST00000696286.1:c.3188G>A	ENSP00000512523.1:p.Trp1063Ter
ENST00000696287.1:c.3059G>A	ENSP00000512524.1:p.Trp1020Ter
ENST00000696291.1:c.*2620G>A	ENSP00000512530.1:n.*2620G>A
ENST00000389301.8:c.3188G>A MANE Select	ENSP00000373952.3:p.Trp1063Ter
ENST00000305699.15:n.431G>A
ENST00000389301.7:c.3188G>A	ENSP00000373952.3:p.Trp1063Ter
ENST00000561660.1:c.444-1014G>A
ENST00000563510.5:c.578G>A
ENST00000567988.5:c.440G>A
ENST00000568369.5:c.3188G>A	ENSP00000456829.1:p.Trp1063Ter
ENST00000568626.1:c.36G>A
ENST00000568983.5:n.16G>A
NM_000135.2:c.3188G>A , LRG_495t1:c.3188G>A	NP_000126.2:p.Trp1063Ter
NM_001286167.1:c.3188G>A	NP_001273096.1:p.Trp1063Ter
XM_005256294.3:c.3188G>A	XP_005256351.1:p.Trp1063Ter
XM_011522945.1:c.3059G>A	XP_011521247.1:p.Trp1020Ter
XM_011522946.1:c.2165G>A	XP_011521248.1:p.Trp722Ter
XM_011522947.1:c.2165G>A	XP_011521249.1:p.Trp722Ter
XR_933244.1:n.3231G>A
XR_933245.1:n.3231G>A
XR_933246.1:n.3110-1014G>A
NM_000135.3:c.3188G>A	NP_000126.2:p.Trp1063Ter
NM_001286167.2:c.3188G>A	NP_001273096.1:p.Trp1063Ter
XM_005256294.4:c.3188G>A	XP_005256351.1:p.Trp1063Ter
XM_011522945.2:c.3059G>A	XP_011521247.1:p.Trp1020Ter
XM_011522946.3:c.2165G>A	XP_011521248.1:p.Trp722Ter
XM_011522947.2:c.2165G>A	XP_011521249.1:p.Trp722Ter
XM_017023044.2:c.3059G>A	XP_016878533.1:p.Trp1020Ter
XM_024450189.1:c.2165G>A	XP_024305957.1:p.Trp722Ter
XR_001751866.1:n.3110-1014G>A
XR_933244.2:n.3231G>A
XR_933245.2:n.3231G>A
NM_000135.4:c.3188G>A MANE Select	NP_000126.2:p.Trp1063Ter
NM_001286167.3:c.3188G>A	NP_001273096.1:p.Trp1063Ter