Canonical Allele Identifier: CA338977

Gene: FANCA

Linked Data

• ClinVar Variation Id: 215981
• ClinVar RCV Id: RCV000199923 ; RCV000674142 ; RCV001091062 ; RCV002252053
• dbSNP Id: rs780825099
• ExAC: 16:89831470 T / G
• gnomAD v2: 16-89831470-T-G
• gnomAD v3: 16-89765062-T-G
• gnomAD v4: 16-89765062-T-G
• MyVariant Identifiers: chr16:g.89831470T>G (hg19) ; chr16:g.89765062T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89765062T>G , CM000678.2:g.89765062T>G	GRCh38
NC_000016.9:g.89831470T>G , CM000678.1:g.89831470T>G	GRCh37
NC_000016.8:g.88358971T>G	NCBI36
NG_011706.1:g.56596A>C , LRG_495:g.56596A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*1100A>C	ENSP00000512522.1:n.*1100A>C
ENST00000564475.6:c.2606A>C	ENSP00000454977.2:p.Gln869Pro
ENST00000567510.2:c.1305A>C	ENSP00000455969.1:n.1305A>C
ENST00000568369.6:c.2606A>C	ENSP00000456829.1:p.Gln869Pro
ENST00000696274.1:n.2567A>C
ENST00000696275.1:c.*1841A>C	ENSP00000512517.1:n.*1841A>C
ENST00000696276.1:n.2649A>C
ENST00000696286.1:c.2606A>C	ENSP00000512523.1:p.Gln869Pro
ENST00000696287.1:c.2606A>C	ENSP00000512524.1:p.Gln869Pro
ENST00000696291.1:c.*2326A>C	ENSP00000512530.1:n.*2326A>C
ENST00000389301.8:c.2606A>C MANE Select	ENSP00000373952.3:p.Gln869Pro
ENST00000389301.7:c.2606A>C	ENSP00000373952.3:p.Gln869Pro
ENST00000563318.1:c.12A>C
ENST00000568369.5:c.2606A>C	ENSP00000456829.1:p.Gln869Pro
NM_000135.2:c.2606A>C , LRG_495t1:c.2606A>C	NP_000126.2:p.Gln869Pro
NM_001286167.1:c.2606A>C	NP_001273096.1:p.Gln869Pro
XM_005256294.3:c.2606A>C	XP_005256351.1:p.Gln869Pro
XM_011522945.1:c.2606A>C	XP_011521247.1:p.Gln869Pro
XM_011522946.1:c.1583A>C	XP_011521248.1:p.Gln528Pro
XM_011522947.1:c.1583A>C	XP_011521249.1:p.Gln528Pro
XR_933244.1:n.2649A>C
XR_933245.1:n.2649A>C
XR_933246.1:n.2649A>C
NM_000135.3:c.2606A>C	NP_000126.2:p.Gln869Pro
NM_001286167.2:c.2606A>C	NP_001273096.1:p.Gln869Pro
XM_005256294.4:c.2606A>C	XP_005256351.1:p.Gln869Pro
XM_011522945.2:c.2606A>C	XP_011521247.1:p.Gln869Pro
XM_011522946.3:c.1583A>C	XP_011521248.1:p.Gln528Pro
XM_011522947.2:c.1583A>C	XP_011521249.1:p.Gln528Pro
XM_017023044.2:c.2606A>C	XP_016878533.1:p.Gln869Pro
XM_017023045.1:c.2606A>C	XP_016878534.1:p.Gln869Pro
XM_024450189.1:c.1583A>C	XP_024305957.1:p.Gln528Pro
XR_001751866.1:n.2649A>C
XR_933244.2:n.2649A>C
XR_933245.2:n.2649A>C
XR_933247.2:n.2778A>C
NM_000135.4:c.2606A>C MANE Select	NP_000126.2:p.Gln869Pro
NM_001286167.3:c.2606A>C	NP_001273096.1:p.Gln869Pro