Canonical Allele Identifier: CA1139665008

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89769703T>C , CM000678.2:g.89769703T>C	GRCh38
NC_000016.9:g.89836111T>C , CM000678.1:g.89836111T>C	GRCh37
NC_000016.8:g.88363612T>C	NCBI36
NG_011706.1:g.51955A>G , LRG_495:g.51955A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.2504+134A>G MANE Select	NP_000126.2:n.2504+134A>G
ENST00000389301.8:c.2504+134A>G MANE Select	ENSP00000373952.3:n.2504+134A>G
NM_000135.2:c.2504+134A>G , LRG_495t1:c.2504+134A>G	NP_000126.2:n.2504+134A>G
NM_000135.3:c.2504+134A>G	NP_000126.2:n.2504+134A>G
NM_001286167.1:c.2504+134A>G	NP_001273096.1:n.2504+134A>G
NM_001286167.2:c.2504+134A>G	NP_001273096.1:n.2504+134A>G
NM_001286167.3:c.2504+134A>G	NP_001273096.1:n.2504+134A>G
ENST00000389301.7:c.2504+134A>G	ENSP00000373952.3:n.2504+134A>G
ENST00000561667.2:c.*998+134A>G	ENSP00000512522.1:n.*998+134A>G
ENST00000564475.6:c.2504+134A>G	ENSP00000454977.2:n.2504+134A>G
ENST00000567205.1:c.317+5A>G	ENSP00000457027.1:n.317+5A>G
ENST00000567205.2:c.*125+5A>G	ENSP00000457027.2:n.*125+5A>G
ENST00000567510.2:c.1203+134A>G	ENSP00000455969.1:n.1203+134A>G
ENST00000568369.5:c.2504+134A>G	ENSP00000456829.1:n.2504+134A>G
ENST00000568369.6:c.2504+134A>G	ENSP00000456829.1:n.2504+134A>G
ENST00000696274.1:n.2465+134A>G
ENST00000696275.1:c.*1739+134A>G	ENSP00000512517.1:n.*1739+134A>G
ENST00000696276.1:n.2547+134A>G
ENST00000696286.1:c.2504+134A>G	ENSP00000512523.1:n.2504+134A>G
ENST00000696287.1:c.2504+134A>G	ENSP00000512524.1:n.2504+134A>G
ENST00000696291.1:c.*2224+134A>G	ENSP00000512530.1:n.*2224+134A>G
XM_005256294.3:c.2504+134A>G	XP_005256351.1:n.2504+134A>G
XM_005256294.4:c.2504+134A>G	XP_005256351.1:n.2504+134A>G
XM_011522945.1:c.2504+134A>G	XP_011521247.1:n.2504+134A>G
XM_011522945.2:c.2504+134A>G	XP_011521247.1:n.2504+134A>G
XM_011522946.1:c.1481+134A>G	XP_011521248.1:n.1481+134A>G
XM_011522946.3:c.1481+134A>G	XP_011521248.1:n.1481+134A>G
XM_011522947.1:c.1481+134A>G	XP_011521249.1:n.1481+134A>G
XM_011522947.2:c.1481+134A>G	XP_011521249.1:n.1481+134A>G
XM_017023044.2:c.2504+134A>G	XP_016878533.1:n.2504+134A>G
XM_017023045.1:c.2504+134A>G	XP_016878534.1:n.2504+134A>G
XM_024450189.1:c.1481+134A>G	XP_024305957.1:n.1481+134A>G
XR_001751866.1:n.2547+134A>G
XR_933244.1:n.2547+134A>G
XR_933244.2:n.2547+134A>G
XR_933245.1:n.2547+134A>G
XR_933245.2:n.2547+134A>G
XR_933246.1:n.2547+134A>G
XR_933247.1:n.2676+5A>G
XR_933247.2:n.2676+5A>G