Canonical Allele Identifier: CA397438104

Gene: FANCA

Linked Data

• ClinVar Variation Id: 555969
• ClinVar RCV Id: RCV000671893 ; RCV000796523 ; RCV001816676
• dbSNP Id: rs1302083447
• gnomAD v2: 16-89831338-T-G
• gnomAD v3: 16-89764930-T-G
• gnomAD v4: 16-89764930-T-G
• MyVariant Identifiers: chr16:g.89831338T>G (hg19) ; chr16:g.89764930T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764930T>G , CM000678.2:g.89764930T>G	GRCh38
NC_000016.9:g.89831338T>G , CM000678.1:g.89831338T>G	GRCh37
NC_000016.8:g.88358839T>G	NCBI36
NG_011706.1:g.56728A>C , LRG_495:g.56728A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1232A>C	ENSP00000512522.1:n.*1232A>C
ENST00000564475.6:c.2738A>C	ENSP00000454977.2:p.His913Pro
ENST00000567510.2:c.1437A>C	ENSP00000455969.1:n.1437A>C
ENST00000568369.6:c.2738A>C	ENSP00000456829.1:p.His913Pro
ENST00000696274.1:n.2699A>C
ENST00000696275.1:c.*1973A>C	ENSP00000512517.1:n.*1973A>C
ENST00000696276.1:n.2781A>C
ENST00000696286.1:c.2738A>C	ENSP00000512523.1:p.His913Pro
ENST00000696287.1:c.2738A>C	ENSP00000512524.1:p.His913Pro
ENST00000696291.1:c.*2458A>C	ENSP00000512530.1:n.*2458A>C
ENST00000389301.8:c.2738A>C MANE Select	ENSP00000373952.3:p.His913Pro
ENST00000305699.15:n.110A>C
ENST00000389301.7:c.2738A>C	ENSP00000373952.3:p.His913Pro
ENST00000561660.1:c.115A>C
ENST00000563318.1:c.144A>C
ENST00000563510.5:c.18A>C
ENST00000567988.5:c.75A>C
ENST00000568369.5:c.2738A>C	ENSP00000456829.1:p.His913Pro
NM_000135.2:c.2738A>C , LRG_495t1:c.2738A>C	NP_000126.2:p.His913Pro
NM_001286167.1:c.2738A>C	NP_001273096.1:p.His913Pro
XM_005256294.3:c.2738A>C	XP_005256351.1:p.His913Pro
XM_011522945.1:c.2738A>C	XP_011521247.1:p.His913Pro
XM_011522946.1:c.1715A>C	XP_011521248.1:p.His572Pro
XM_011522947.1:c.1715A>C	XP_011521249.1:p.His572Pro
XR_933244.1:n.2781A>C
XR_933245.1:n.2781A>C
XR_933246.1:n.2781A>C
NM_000135.3:c.2738A>C	NP_000126.2:p.His913Pro
NM_001286167.2:c.2738A>C	NP_001273096.1:p.His913Pro
XM_005256294.4:c.2738A>C	XP_005256351.1:p.His913Pro
XM_011522945.2:c.2738A>C	XP_011521247.1:p.His913Pro
XM_011522946.3:c.1715A>C	XP_011521248.1:p.His572Pro
XM_011522947.2:c.1715A>C	XP_011521249.1:p.His572Pro
XM_017023044.2:c.2738A>C	XP_016878533.1:p.His913Pro
XM_017023045.1:c.2738A>C	XP_016878534.1:p.His913Pro
XM_024450189.1:c.1715A>C	XP_024305957.1:p.His572Pro
XR_001751866.1:n.2781A>C
XR_933244.2:n.2781A>C
XR_933245.2:n.2781A>C
XR_933247.2:n.2910A>C
NM_000135.4:c.2738A>C MANE Select	NP_000126.2:p.His913Pro
NM_001286167.3:c.2738A>C	NP_001273096.1:p.His913Pro