Canonical Allele Identifier: CA497195227

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745045C>T , CM000678.2:g.89745045C>T	GRCh38
NC_000016.9:g.89811453C>T , CM000678.1:g.89811453C>T	GRCh37
NC_000016.8:g.88338954C>T	NCBI36
NG_011706.1:g.76613G>A , LRG_495:g.76613G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3540G>A MANE Select	NP_000126.2:p.Val1180=
ENST00000389301.8:c.3540G>A MANE Select	ENSP00000373952.3:p.Val1180=
NM_000135.2:c.3540G>A , LRG_495t1:c.3540G>A	NP_000126.2:p.Val1180=
NM_000135.3:c.3540G>A	NP_000126.2:p.Val1180=
NM_001286167.1:c.3540G>A	NP_001273096.1:p.Val1180=
NM_001286167.2:c.3540G>A	NP_001273096.1:p.Val1180=
NM_001286167.3:c.3540G>A	NP_001273096.1:p.Val1180=
ENST00000305699.15:n.783G>A
ENST00000389301.7:c.3540G>A	ENSP00000373952.3:p.Val1180=
ENST00000561660.1:c.744G>A
ENST00000561667.2:c.*2018G>A	ENSP00000512522.1:n.*2018G>A
ENST00000564475.6:c.3540G>A	ENSP00000454977.2:p.Val1180=
ENST00000567510.2:c.2110G>A	ENSP00000455969.1:n.2110G>A
ENST00000567879.5:c.18G>A	ENSP00000457006.1:p.Val6=
ENST00000567988.5:c.792G>A
ENST00000568369.5:c.3540G>A	ENSP00000456829.1:p.Val1180=
ENST00000568369.6:c.3540G>A	ENSP00000456829.1:p.Val1180=
ENST00000568626.1:c.388G>A
ENST00000568983.5:n.368G>A
ENST00000568983.6:n.559G>A
ENST00000696274.1:n.3501G>A
ENST00000696275.1:c.*2775G>A	ENSP00000512517.1:n.*2775G>A
ENST00000696286.1:c.3540G>A	ENSP00000512523.1:p.Val1180=
ENST00000696287.1:c.3411G>A	ENSP00000512524.1:p.Val1137=
ENST00000696291.1:c.*2972G>A	ENSP00000512530.1:n.*2972G>A
XM_005256294.3:c.3540G>A	XP_005256351.1:p.Val1180=
XM_005256294.4:c.3540G>A	XP_005256351.1:p.Val1180=
XM_011522945.1:c.3411G>A	XP_011521247.1:p.Val1137=
XM_011522945.2:c.3411G>A	XP_011521247.1:p.Val1137=
XM_011522946.1:c.2517G>A	XP_011521248.1:p.Val839=
XM_011522946.3:c.2517G>A	XP_011521248.1:p.Val839=
XM_011522947.1:c.2517G>A	XP_011521249.1:p.Val839=
XM_011522947.2:c.2517G>A	XP_011521249.1:p.Val839=
XM_017023044.2:c.3411G>A	XP_016878533.1:p.Val1137=
XM_024450189.1:c.2517G>A	XP_024305957.1:p.Val839=
XR_001751866.1:n.3410G>A
XR_933244.1:n.3583G>A
XR_933244.2:n.3583G>A
XR_933245.1:n.3583G>A
XR_933245.2:n.3583G>A
XR_933246.1:n.3410G>A