Canonical Allele Identifier: CA397485378

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89742850C>A , CM000678.2:g.89742850C>A	GRCh38
NC_000016.9:g.89809258C>A , CM000678.1:g.89809258C>A	GRCh37
NC_000016.8:g.88336759C>A	NCBI36
NG_011706.1:g.78808G>T , LRG_495:g.78808G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3715G>T MANE Select	NP_000126.2:p.Glu1239Ter
ENST00000389301.8:c.3715G>T MANE Select	ENSP00000373952.3:p.Glu1239Ter
NM_000135.2:c.3715G>T , LRG_495t1:c.3715G>T	NP_000126.2:p.Glu1239Ter
NM_000135.3:c.3715G>T	NP_000126.2:p.Glu1239Ter
NM_001286167.1:c.3715G>T	NP_001273096.1:p.Glu1239Ter
NM_001286167.2:c.3715G>T	NP_001273096.1:p.Glu1239Ter
NM_001286167.3:c.3715G>T	NP_001273096.1:p.Glu1239Ter
ENST00000305699.15:n.958G>T
ENST00000389301.7:c.3715G>T	ENSP00000373952.3:p.Glu1239Ter
ENST00000561667.2:c.*2193G>T	ENSP00000512522.1:n.*2193G>T
ENST00000564475.5:c.45G>T
ENST00000564475.6:c.3715G>T	ENSP00000454977.2:p.Glu1239Ter
ENST00000564969.5:n.51-1984G>T
ENST00000567510.2:c.2285G>T	ENSP00000455969.1:n.2285G>T
ENST00000567879.5:c.193G>T	ENSP00000457006.1:p.Glu65Ter
ENST00000568369.5:c.3715G>T	ENSP00000456829.1:p.Glu1239Ter
ENST00000568369.6:c.3715G>T	ENSP00000456829.1:p.Glu1239Ter
ENST00000568626.1:c.475-1984G>T
ENST00000696274.1:n.3676G>T
ENST00000696275.1:c.*2950G>T	ENSP00000512517.1:n.*2950G>T
ENST00000696286.1:c.3715G>T	ENSP00000512523.1:p.Glu1239Ter
ENST00000696287.1:c.3586G>T	ENSP00000512524.1:p.Glu1196Ter
ENST00000696291.1:c.*3147G>T	ENSP00000512530.1:n.*3147G>T
XM_005256294.3:c.3715G>T	XP_005256351.1:p.Glu1239Ter
XM_005256294.4:c.3715G>T	XP_005256351.1:p.Glu1239Ter
XM_011522945.1:c.3586G>T	XP_011521247.1:p.Glu1196Ter
XM_011522945.2:c.3586G>T	XP_011521247.1:p.Glu1196Ter
XM_011522946.1:c.2692G>T	XP_011521248.1:p.Glu898Ter
XM_011522946.3:c.2692G>T	XP_011521248.1:p.Glu898Ter
XM_011522947.1:c.2692G>T	XP_011521249.1:p.Glu898Ter
XM_011522947.2:c.2692G>T	XP_011521249.1:p.Glu898Ter
XM_017023044.2:c.3586G>T	XP_016878533.1:p.Glu1196Ter
XM_024450189.1:c.2692G>T	XP_024305957.1:p.Glu898Ter
XR_001751866.1:n.3585G>T
XR_933244.1:n.3758G>T
XR_933244.2:n.3758G>T
XR_933245.1:n.3670-1984G>T
XR_933245.2:n.3670-1984G>T
XR_933246.1:n.3585G>T