Canonical Allele Identifier: CA159241

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89791527G>A , CM000678.2:g.89791527G>A	GRCh38
NC_000016.9:g.89857935G>A , CM000678.1:g.89857935G>A	GRCh37
NC_000016.8:g.88385436G>A	NCBI36
NG_011706.1:g.30131C>T , LRG_495:g.30131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.1235C>T	ENSP00000512522.1:p.Ala412Val
ENST00000563767.2:n.1130C>T
ENST00000564475.6:c.1235C>T	ENSP00000454977.2:p.Ala412Val
ENST00000567205.2:c.1235C>T	ENSP00000457027.2:p.Ala412Val
ENST00000567284.7:n.1278C>T
ENST00000567621.6:c.*222C>T	ENSP00000456762.2:n.*222C>T
ENST00000568369.6:c.1235C>T	ENSP00000456829.1:p.Ala412Val
ENST00000696274.1:n.1196C>T
ENST00000696275.1:c.*470C>T	ENSP00000512517.1:n.*470C>T
ENST00000696276.1:n.1278C>T
ENST00000696277.1:c.1235C>T	ENSP00000512518.1:p.Ala412Val
ENST00000696286.1:c.1235C>T	ENSP00000512523.1:p.Ala412Val
ENST00000696287.1:c.1235C>T	ENSP00000512524.1:p.Ala412Val
ENST00000696291.1:c.*579C>T	ENSP00000512530.1:n.*579C>T
ENST00000696292.1:c.1315C>T	ENSP00000512531.1:n.1315C>T
ENST00000389301.8:c.1235C>T MANE Select	ENSP00000373952.3:p.Ala412Val
ENST00000389301.7:c.1235C>T	ENSP00000373952.3:p.Ala412Val
ENST00000563767.1:n.95C>T
ENST00000567621.5:c.599C>T
ENST00000568369.5:c.1235C>T	ENSP00000456829.1:p.Ala412Val
NM_000135.2:c.1235C>T , LRG_495t1:c.1235C>T	NP_000126.2:p.Ala412Val
NM_001286167.1:c.1235C>T	NP_001273096.1:p.Ala412Val
XM_005256294.3:c.1235C>T	XP_005256351.1:p.Ala412Val
XM_011522945.1:c.1235C>T	XP_011521247.1:p.Ala412Val
XM_011522946.1:c.212C>T	XP_011521248.1:p.Ala71Val
XM_011522947.1:c.212C>T	XP_011521249.1:p.Ala71Val
XM_011522948.1:c.1235C>T	XP_011521250.1:p.Ala412Val
XR_933244.1:n.1278C>T
XR_933245.1:n.1278C>T
XR_933246.1:n.1278C>T
XR_933247.1:n.1278C>T
NM_000135.3:c.1235C>T	NP_000126.2:p.Ala412Val
NM_001286167.2:c.1235C>T	NP_001273096.1:p.Ala412Val
XM_005256294.4:c.1235C>T	XP_005256351.1:p.Ala412Val
XM_011522945.2:c.1235C>T	XP_011521247.1:p.Ala412Val
XM_011522946.3:c.212C>T	XP_011521248.1:p.Ala71Val
XM_011522947.2:c.212C>T	XP_011521249.1:p.Ala71Val
XM_011522948.2:c.1235C>T	XP_011521250.1:p.Ala412Val
XM_017023044.2:c.1235C>T	XP_016878533.1:p.Ala412Val
XM_017023045.1:c.1235C>T	XP_016878534.1:p.Ala412Val
XM_017023046.1:c.1225+400C>T	XP_016878535.1:n.1225+400C>T
XM_024450189.1:c.212C>T	XP_024305957.1:p.Ala71Val
XR_001751866.1:n.1278C>T
XR_001751867.1:n.1278C>T
XR_001751868.2:n.1165C>T
XR_002957793.1:n.1407C>T
XR_933244.2:n.1278C>T
XR_933245.2:n.1278C>T
XR_933247.2:n.1278C>T
NM_000135.4:c.1235C>T MANE Select	NP_000126.2:p.Ala412Val
NM_001286167.3:c.1235C>T	NP_001273096.1:p.Ala412Val