Canonical Allele Identifier: CA2241906945

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764919G= , CM000678.2:g.89764919G=	GRCh38
NC_000016.9:g.89831327G= , CM000678.1:g.89831327G=	GRCh37
NC_000016.8:g.88358828G=	NCBI36
NG_011706.1:g.56739C= , LRG_495:g.56739C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1243C=	ENSP00000512522.1:n.*1243C=
ENST00000564475.6:c.2749C=	ENSP00000454977.2:p.Arg917=
ENST00000567510.2:c.1448C=	ENSP00000455969.1:n.1448C=
ENST00000568369.6:c.2749C=	ENSP00000456829.1:p.Arg917=
ENST00000696274.1:n.2710C=
ENST00000696275.1:c.*1984C=	ENSP00000512517.1:n.*1984C=
ENST00000696276.1:n.2792C=
ENST00000696286.1:c.2749C=	ENSP00000512523.1:p.Arg917=
ENST00000696287.1:c.2749C=	ENSP00000512524.1:p.Arg917=
ENST00000696291.1:c.*2469C=	ENSP00000512530.1:n.*2469C=
ENST00000389301.8:c.2749C= MANE Select	ENSP00000373952.3:p.Arg917=
ENST00000305699.15:n.121C=
ENST00000389301.7:c.2749C=	ENSP00000373952.3:p.Arg917=
ENST00000561660.1:c.126C=
ENST00000563318.1:c.155C=
ENST00000563510.5:c.29C=
ENST00000567988.5:c.86C=
ENST00000568369.5:c.2749C=	ENSP00000456829.1:p.Arg917=
NM_000135.2:c.2749C= , LRG_495t1:c.2749C=	NP_000126.2:p.Arg917=
NM_001286167.1:c.2749C=	NP_001273096.1:p.Arg917=
XM_005256294.3:c.2749C=	XP_005256351.1:p.Arg917=
XM_011522945.1:c.2749C=	XP_011521247.1:p.Arg917=
XM_011522946.1:c.1726C=	XP_011521248.1:p.Arg576=
XM_011522947.1:c.1726C=	XP_011521249.1:p.Arg576=
XR_933244.1:n.2792C=
XR_933245.1:n.2792C=
XR_933246.1:n.2792C=
NM_000135.3:c.2749C=	NP_000126.2:p.Arg917=
NM_001286167.2:c.2749C=	NP_001273096.1:p.Arg917=
XM_005256294.4:c.2749C=	XP_005256351.1:p.Arg917=
XM_011522945.2:c.2749C=	XP_011521247.1:p.Arg917=
XM_011522946.3:c.1726C=	XP_011521248.1:p.Arg576=
XM_011522947.2:c.1726C=	XP_011521249.1:p.Arg576=
XM_017023044.2:c.2749C=	XP_016878533.1:p.Arg917=
XM_017023045.1:c.2749C=	XP_016878534.1:p.Arg917=
XM_024450189.1:c.1726C=	XP_024305957.1:p.Arg576=
XR_001751866.1:n.2792C=
XR_933244.2:n.2792C=
XR_933245.2:n.2792C=
XR_933247.2:n.2921C=
NM_000135.4:c.2749C= MANE Select	NP_000126.2:p.Arg917=
NM_001286167.3:c.2749C=	NP_001273096.1:p.Arg917=