Canonical Allele Identifier: CA397469937

Gene: FANCA

Linked Data

• ClinVar Variation Id: 456147
• ClinVar RCV Id: RCV000527193 ; RCV000673548
• dbSNP Id: rs1447363475
• gnomAD v4: 16-89795941-A-C
• MyVariant Identifiers: chr16:g.89862349A>C (hg19) ; chr16:g.89795941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89795941A>C , CM000678.2:g.89795941A>C	GRCh38
NC_000016.9:g.89862349A>C , CM000678.1:g.89862349A>C	GRCh37
NC_000016.8:g.88389850A>C	NCBI36
NG_011706.1:g.25717T>G , LRG_495:g.25717T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.971T>G	ENSP00000512522.1:p.Leu324Arg
ENST00000563767.2:n.866T>G
ENST00000564475.6:c.971T>G	ENSP00000454977.2:p.Leu324Arg
ENST00000567205.2:c.971T>G	ENSP00000457027.2:p.Leu324Arg
ENST00000567284.7:n.1014T>G
ENST00000567621.6:c.893+3225T>G	ENSP00000456762.2:n.893+3225T>G
ENST00000568369.6:c.971T>G	ENSP00000456829.1:p.Leu324Arg
ENST00000696274.1:n.967+3225T>G
ENST00000696275.1:c.*206T>G	ENSP00000512517.1:n.*206T>G
ENST00000696276.1:n.1014T>G
ENST00000696277.1:c.971T>G	ENSP00000512518.1:p.Leu324Arg
ENST00000696286.1:c.971T>G	ENSP00000512523.1:p.Leu324Arg
ENST00000696287.1:c.971T>G	ENSP00000512524.1:p.Leu324Arg
ENST00000696291.1:c.*315T>G	ENSP00000512530.1:n.*315T>G
ENST00000696292.1:c.1051T>G	ENSP00000512531.1:n.1051T>G
ENST00000389301.8:c.971T>G MANE Select	ENSP00000373952.3:p.Leu324Arg
ENST00000389301.7:c.971T>G	ENSP00000373952.3:p.Leu324Arg
ENST00000566409.1:c.360T>G
ENST00000567621.5:c.370+3225T>G
ENST00000568369.5:c.971T>G	ENSP00000456829.1:p.Leu324Arg
NM_000135.2:c.971T>G , LRG_495t1:c.971T>G	NP_000126.2:p.Leu324Arg
NM_001286167.1:c.971T>G	NP_001273096.1:p.Leu324Arg
XM_005256294.3:c.971T>G	XP_005256351.1:p.Leu324Arg
XM_011522945.1:c.971T>G	XP_011521247.1:p.Leu324Arg
XM_011522946.1:c.-53T>G	XP_011521248.1:n.-53T>G
XM_011522947.1:c.-18+3225T>G	XP_011521249.1:n.-18+3225T>G
XM_011522948.1:c.971T>G	XP_011521250.1:p.Leu324Arg
XR_933244.1:n.1014T>G
XR_933245.1:n.1014T>G
XR_933246.1:n.1014T>G
XR_933247.1:n.1014T>G
NM_000135.3:c.971T>G	NP_000126.2:p.Leu324Arg
NM_001286167.2:c.971T>G	NP_001273096.1:p.Leu324Arg
XM_005256294.4:c.971T>G	XP_005256351.1:p.Leu324Arg
XM_011522945.2:c.971T>G	XP_011521247.1:p.Leu324Arg
XM_011522946.3:c.-53T>G	XP_011521248.1:n.-53T>G
XM_011522947.2:c.-18+3225T>G	XP_011521249.1:n.-18+3225T>G
XM_011522948.2:c.971T>G	XP_011521250.1:p.Leu324Arg
XM_017023044.2:c.971T>G	XP_016878533.1:p.Leu324Arg
XM_017023045.1:c.971T>G	XP_016878534.1:p.Leu324Arg
XM_017023046.1:c.971T>G	XP_016878535.1:p.Leu324Arg
XM_024450189.1:c.-53T>G	XP_024305957.1:n.-53T>G
XR_001751866.1:n.1014T>G
XR_001751867.1:n.1014T>G
XR_001751868.2:n.936+3225T>G
XR_002957793.1:n.1143T>G
XR_933244.2:n.1014T>G
XR_933245.2:n.1014T>G
XR_933247.2:n.1014T>G
NM_000135.4:c.971T>G MANE Select	NP_000126.2:p.Leu324Arg
NM_001286167.3:c.971T>G	NP_001273096.1:p.Leu324Arg