Canonical Allele Identifier: CA159319

Gene: FANCA

Linked Data

• ClinVar Variation Id: 134271
• ClinVar RCV Id: RCV000120944 ; RCV000862979 ; RCV001274558 ; RCV003477508 ; RCV003975073
• dbSNP Id: rs138013482
• ExAC: 16:89811409 C / T
• gnomAD v2: 16-89811409-C-T
• gnomAD v3: 16-89745001-C-T
• gnomAD v4: 16-89745001-C-T
• MyVariant Identifiers: chr16:g.89811409C>T (hg19) ; chr16:g.89745001C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745001C>T , CM000678.2:g.89745001C>T	GRCh38
NC_000016.9:g.89811409C>T , CM000678.1:g.89811409C>T	GRCh37
NC_000016.8:g.88338910C>T	NCBI36
NG_011706.1:g.76657G>A , LRG_495:g.76657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2062G>A	ENSP00000512522.1:n.*2062G>A
ENST00000564475.6:c.3584G>A	ENSP00000454977.2:p.Arg1195Gln
ENST00000567510.2:c.2154G>A	ENSP00000455969.1:n.2154G>A
ENST00000568369.6:c.3584G>A	ENSP00000456829.1:p.Arg1195Gln
ENST00000568983.6:n.603G>A
ENST00000696274.1:n.3545G>A
ENST00000696275.1:c.*2819G>A	ENSP00000512517.1:n.*2819G>A
ENST00000696286.1:c.3584G>A	ENSP00000512523.1:p.Arg1195Gln
ENST00000696287.1:c.3455G>A	ENSP00000512524.1:p.Arg1152Gln
ENST00000696291.1:c.*3016G>A	ENSP00000512530.1:n.*3016G>A
ENST00000389301.8:c.3584G>A MANE Select	ENSP00000373952.3:p.Arg1195Gln
ENST00000305699.15:n.827G>A
ENST00000389301.7:c.3584G>A	ENSP00000373952.3:p.Arg1195Gln
ENST00000564969.5:n.8G>A
ENST00000567879.5:c.62G>A	ENSP00000457006.1:p.Arg21Gln
ENST00000567988.5:c.836G>A
ENST00000568369.5:c.3584G>A	ENSP00000456829.1:p.Arg1195Gln
ENST00000568626.1:c.432G>A
ENST00000568983.5:n.412G>A
NM_000135.2:c.3584G>A , LRG_495t1:c.3584G>A	NP_000126.2:p.Arg1195Gln
NM_001286167.1:c.3584G>A	NP_001273096.1:p.Arg1195Gln
XM_005256294.3:c.3584G>A	XP_005256351.1:p.Arg1195Gln
XM_011522945.1:c.3455G>A	XP_011521247.1:p.Arg1152Gln
XM_011522946.1:c.2561G>A	XP_011521248.1:p.Arg854Gln
XM_011522947.1:c.2561G>A	XP_011521249.1:p.Arg854Gln
XR_933244.1:n.3627G>A
XR_933245.1:n.3627G>A
XR_933246.1:n.3454G>A
NM_000135.3:c.3584G>A	NP_000126.2:p.Arg1195Gln
NM_001286167.2:c.3584G>A	NP_001273096.1:p.Arg1195Gln
XM_005256294.4:c.3584G>A	XP_005256351.1:p.Arg1195Gln
XM_011522945.2:c.3455G>A	XP_011521247.1:p.Arg1152Gln
XM_011522946.3:c.2561G>A	XP_011521248.1:p.Arg854Gln
XM_011522947.2:c.2561G>A	XP_011521249.1:p.Arg854Gln
XM_017023044.2:c.3455G>A	XP_016878533.1:p.Arg1152Gln
XM_024450189.1:c.2561G>A	XP_024305957.1:p.Arg854Gln
XR_001751866.1:n.3454G>A
XR_933244.2:n.3627G>A
XR_933245.2:n.3627G>A
NM_000135.4:c.3584G>A MANE Select	NP_000126.2:p.Arg1195Gln
NM_001286167.3:c.3584G>A	NP_001273096.1:p.Arg1195Gln