Canonical Allele Identifier: CA397486164

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89746889C>G , CM000678.2:g.89746889C>G	GRCh38
NC_000016.9:g.89813297C>G , CM000678.1:g.89813297C>G	GRCh37
NC_000016.8:g.88340798C>G	NCBI36
NG_011706.1:g.74769G>C , LRG_495:g.74769G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3350G>C MANE Select	NP_000126.2:p.Arg1117Thr
ENST00000389301.8:c.3350G>C MANE Select	ENSP00000373952.3:p.Arg1117Thr
NM_000135.2:c.3350G>C , LRG_495t1:c.3350G>C	NP_000126.2:p.Arg1117Thr
NM_000135.3:c.3350G>C	NP_000126.2:p.Arg1117Thr
NM_001286167.1:c.3350G>C	NP_001273096.1:p.Arg1117Thr
NM_001286167.2:c.3350G>C	NP_001273096.1:p.Arg1117Thr
NM_001286167.3:c.3350G>C	NP_001273096.1:p.Arg1117Thr
ENST00000305699.15:n.593G>C
ENST00000389301.7:c.3350G>C	ENSP00000373952.3:p.Arg1117Thr
ENST00000561660.1:c.554G>C
ENST00000561667.2:c.*1828G>C	ENSP00000512522.1:n.*1828G>C
ENST00000564475.6:c.3350G>C	ENSP00000454977.2:p.Arg1117Thr
ENST00000567510.2:c.1920G>C	ENSP00000455969.1:n.1920G>C
ENST00000567988.5:c.602G>C
ENST00000568369.5:c.3350G>C	ENSP00000456829.1:p.Arg1117Thr
ENST00000568369.6:c.3350G>C	ENSP00000456829.1:p.Arg1117Thr
ENST00000568626.1:c.198G>C
ENST00000568983.5:n.178G>C
ENST00000568983.6:n.369G>C
ENST00000696274.1:n.3311G>C
ENST00000696275.1:c.*2585G>C	ENSP00000512517.1:n.*2585G>C
ENST00000696286.1:c.3350G>C	ENSP00000512523.1:p.Arg1117Thr
ENST00000696287.1:c.3221G>C	ENSP00000512524.1:p.Arg1074Thr
ENST00000696291.1:c.*2782G>C	ENSP00000512530.1:n.*2782G>C
XM_005256294.3:c.3350G>C	XP_005256351.1:p.Arg1117Thr
XM_005256294.4:c.3350G>C	XP_005256351.1:p.Arg1117Thr
XM_011522945.1:c.3221G>C	XP_011521247.1:p.Arg1074Thr
XM_011522945.2:c.3221G>C	XP_011521247.1:p.Arg1074Thr
XM_011522946.1:c.2327G>C	XP_011521248.1:p.Arg776Thr
XM_011522946.3:c.2327G>C	XP_011521248.1:p.Arg776Thr
XM_011522947.1:c.2327G>C	XP_011521249.1:p.Arg776Thr
XM_011522947.2:c.2327G>C	XP_011521249.1:p.Arg776Thr
XM_017023044.2:c.3221G>C	XP_016878533.1:p.Arg1074Thr
XM_024450189.1:c.2327G>C	XP_024305957.1:p.Arg776Thr
XR_001751866.1:n.3220G>C
XR_933244.1:n.3393G>C
XR_933244.2:n.3393G>C
XR_933245.1:n.3393G>C
XR_933245.2:n.3393G>C
XR_933246.1:n.3220G>C