Canonical Allele Identifier: CA16621696

Gene: FANCA

Linked Data

• ClinVar Variation Id: 425115
• ClinVar RCV Id: RCV000487984 ; RCV001865499
• dbSNP Id: rs762804216
• MyVariant Identifiers: chr16:g.89831438G>C (hg19) ; chr16:g.89765030G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89765030G>C , CM000678.2:g.89765030G>C	GRCh38
NC_000016.9:g.89831438G>C , CM000678.1:g.89831438G>C	GRCh37
NC_000016.8:g.88358939G>C	NCBI36
NG_011706.1:g.56628C>G , LRG_495:g.56628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1132C>G	ENSP00000512522.1:n.*1132C>G
ENST00000564475.6:c.2638C>G	ENSP00000454977.2:p.Arg880Gly
ENST00000567510.2:c.1337C>G	ENSP00000455969.1:n.1337C>G
ENST00000568369.6:c.2638C>G	ENSP00000456829.1:p.Arg880Gly
ENST00000696274.1:n.2599C>G
ENST00000696275.1:c.*1873C>G	ENSP00000512517.1:n.*1873C>G
ENST00000696276.1:n.2681C>G
ENST00000696286.1:c.2638C>G	ENSP00000512523.1:p.Arg880Gly
ENST00000696287.1:c.2638C>G	ENSP00000512524.1:p.Arg880Gly
ENST00000696291.1:c.*2358C>G	ENSP00000512530.1:n.*2358C>G
ENST00000389301.8:c.2638C>G MANE Select	ENSP00000373952.3:p.Arg880Gly
ENST00000305699.15:n.10C>G
ENST00000389301.7:c.2638C>G	ENSP00000373952.3:p.Arg880Gly
ENST00000561660.1:c.15C>G
ENST00000563318.1:c.44C>G
ENST00000568369.5:c.2638C>G	ENSP00000456829.1:p.Arg880Gly
NM_000135.2:c.2638C>G , LRG_495t1:c.2638C>G	NP_000126.2:p.Arg880Gly
NM_001286167.1:c.2638C>G	NP_001273096.1:p.Arg880Gly
XM_005256294.3:c.2638C>G	XP_005256351.1:p.Arg880Gly
XM_011522945.1:c.2638C>G	XP_011521247.1:p.Arg880Gly
XM_011522946.1:c.1615C>G	XP_011521248.1:p.Arg539Gly
XM_011522947.1:c.1615C>G	XP_011521249.1:p.Arg539Gly
XR_933244.1:n.2681C>G
XR_933245.1:n.2681C>G
XR_933246.1:n.2681C>G
NM_000135.3:c.2638C>G	NP_000126.2:p.Arg880Gly
NM_001286167.2:c.2638C>G	NP_001273096.1:p.Arg880Gly
XM_005256294.4:c.2638C>G	XP_005256351.1:p.Arg880Gly
XM_011522945.2:c.2638C>G	XP_011521247.1:p.Arg880Gly
XM_011522946.3:c.1615C>G	XP_011521248.1:p.Arg539Gly
XM_011522947.2:c.1615C>G	XP_011521249.1:p.Arg539Gly
XM_017023044.2:c.2638C>G	XP_016878533.1:p.Arg880Gly
XM_017023045.1:c.2638C>G	XP_016878534.1:p.Arg880Gly
XM_024450189.1:c.1615C>G	XP_024305957.1:p.Arg539Gly
XR_001751866.1:n.2681C>G
XR_933244.2:n.2681C>G
XR_933245.2:n.2681C>G
XR_933247.2:n.2810C>G
NM_000135.4:c.2638C>G MANE Select	NP_000126.2:p.Arg880Gly
NM_001286167.3:c.2638C>G	NP_001273096.1:p.Arg880Gly