Canonical Allele Identifier: CA397464481

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89791517C>T , CM000678.2:g.89791517C>T	GRCh38
NC_000016.9:g.89857925C>T , CM000678.1:g.89857925C>T	GRCh37
NC_000016.8:g.88385426C>T	NCBI36
NG_011706.1:g.30141G>A , LRG_495:g.30141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.1245G>A	ENSP00000512522.1:p.Met415Ile
ENST00000563767.2:n.1140G>A
ENST00000564475.6:c.1245G>A	ENSP00000454977.2:p.Met415Ile
ENST00000567205.2:c.1245G>A	ENSP00000457027.2:p.Met415Ile
ENST00000567284.7:n.1288G>A
ENST00000567621.6:c.*232G>A	ENSP00000456762.2:n.*232G>A
ENST00000568369.6:c.1245G>A	ENSP00000456829.1:p.Met415Ile
ENST00000696274.1:n.1206G>A
ENST00000696275.1:c.*480G>A	ENSP00000512517.1:n.*480G>A
ENST00000696276.1:n.1288G>A
ENST00000696277.1:c.1245G>A	ENSP00000512518.1:p.Met415Ile
ENST00000696286.1:c.1245G>A	ENSP00000512523.1:p.Met415Ile
ENST00000696287.1:c.1245G>A	ENSP00000512524.1:p.Met415Ile
ENST00000696291.1:c.*589G>A	ENSP00000512530.1:n.*589G>A
ENST00000696292.1:c.1325G>A	ENSP00000512531.1:n.1325G>A
ENST00000389301.8:c.1245G>A MANE Select	ENSP00000373952.3:p.Met415Ile
ENST00000389301.7:c.1245G>A	ENSP00000373952.3:p.Met415Ile
ENST00000563767.1:n.105G>A
ENST00000567621.5:c.609G>A
ENST00000568369.5:c.1245G>A	ENSP00000456829.1:p.Met415Ile
NM_000135.2:c.1245G>A , LRG_495t1:c.1245G>A	NP_000126.2:p.Met415Ile
NM_001286167.1:c.1245G>A	NP_001273096.1:p.Met415Ile
XM_005256294.3:c.1245G>A	XP_005256351.1:p.Met415Ile
XM_011522945.1:c.1245G>A	XP_011521247.1:p.Met415Ile
XM_011522946.1:c.222G>A	XP_011521248.1:p.Met74Ile
XM_011522947.1:c.222G>A	XP_011521249.1:p.Met74Ile
XM_011522948.1:c.1245G>A	XP_011521250.1:p.Met415Ile
XR_933244.1:n.1288G>A
XR_933245.1:n.1288G>A
XR_933246.1:n.1288G>A
XR_933247.1:n.1288G>A
NM_000135.3:c.1245G>A	NP_000126.2:p.Met415Ile
NM_001286167.2:c.1245G>A	NP_001273096.1:p.Met415Ile
XM_005256294.4:c.1245G>A	XP_005256351.1:p.Met415Ile
XM_011522945.2:c.1245G>A	XP_011521247.1:p.Met415Ile
XM_011522946.3:c.222G>A	XP_011521248.1:p.Met74Ile
XM_011522947.2:c.222G>A	XP_011521249.1:p.Met74Ile
XM_011522948.2:c.1245G>A	XP_011521250.1:p.Met415Ile
XM_017023044.2:c.1245G>A	XP_016878533.1:p.Met415Ile
XM_017023045.1:c.1245G>A	XP_016878534.1:p.Met415Ile
XM_017023046.1:c.1225+410G>A	XP_016878535.1:n.1225+410G>A
XM_024450189.1:c.222G>A	XP_024305957.1:p.Met74Ile
XR_001751866.1:n.1288G>A
XR_001751867.1:n.1288G>A
XR_001751868.2:n.1175G>A
XR_002957793.1:n.1417G>A
XR_933244.2:n.1288G>A
XR_933245.2:n.1288G>A
XR_933247.2:n.1288G>A
NM_000135.4:c.1245G>A MANE Select	NP_000126.2:p.Met415Ile
NM_001286167.3:c.1245G>A	NP_001273096.1:p.Met415Ile