Canonical Allele Identifier: CA8251159

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89746679T>A , CM000678.2:g.89746679T>A	GRCh38
NC_000016.9:g.89813087T>A , CM000678.1:g.89813087T>A	GRCh37
NC_000016.8:g.88340588T>A	NCBI36
NG_011706.1:g.74979A>T , LRG_495:g.74979A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3418A>T MANE Select	NP_000126.2:p.Asn1140Tyr
ENST00000389301.8:c.3418A>T MANE Select	ENSP00000373952.3:p.Asn1140Tyr
NM_000135.2:c.3418A>T , LRG_495t1:c.3418A>T	NP_000126.2:p.Asn1140Tyr
NM_000135.3:c.3418A>T	NP_000126.2:p.Asn1140Tyr
NM_001286167.1:c.3418A>T	NP_001273096.1:p.Asn1140Tyr
NM_001286167.2:c.3418A>T	NP_001273096.1:p.Asn1140Tyr
NM_001286167.3:c.3418A>T	NP_001273096.1:p.Asn1140Tyr
ENST00000305699.15:n.661A>T
ENST00000389301.7:c.3418A>T	ENSP00000373952.3:p.Asn1140Tyr
ENST00000561660.1:c.622A>T
ENST00000561667.2:c.*1896A>T	ENSP00000512522.1:n.*1896A>T
ENST00000564475.6:c.3418A>T	ENSP00000454977.2:p.Asn1140Tyr
ENST00000567510.2:c.1988A>T	ENSP00000455969.1:n.1988A>T
ENST00000567988.5:c.670A>T
ENST00000568369.5:c.3418A>T	ENSP00000456829.1:p.Asn1140Tyr
ENST00000568369.6:c.3418A>T	ENSP00000456829.1:p.Asn1140Tyr
ENST00000568626.1:c.266A>T
ENST00000568983.5:n.246A>T
ENST00000568983.6:n.437A>T
ENST00000696274.1:n.3379A>T
ENST00000696275.1:c.*2653A>T	ENSP00000512517.1:n.*2653A>T
ENST00000696286.1:c.3418A>T	ENSP00000512523.1:p.Asn1140Tyr
ENST00000696287.1:c.3289A>T	ENSP00000512524.1:p.Asn1097Tyr
ENST00000696291.1:c.*2850A>T	ENSP00000512530.1:n.*2850A>T
XM_005256294.3:c.3418A>T	XP_005256351.1:p.Asn1140Tyr
XM_005256294.4:c.3418A>T	XP_005256351.1:p.Asn1140Tyr
XM_011522945.1:c.3289A>T	XP_011521247.1:p.Asn1097Tyr
XM_011522945.2:c.3289A>T	XP_011521247.1:p.Asn1097Tyr
XM_011522946.1:c.2395A>T	XP_011521248.1:p.Asn799Tyr
XM_011522946.3:c.2395A>T	XP_011521248.1:p.Asn799Tyr
XM_011522947.1:c.2395A>T	XP_011521249.1:p.Asn799Tyr
XM_011522947.2:c.2395A>T	XP_011521249.1:p.Asn799Tyr
XM_017023044.2:c.3289A>T	XP_016878533.1:p.Asn1097Tyr
XM_024450189.1:c.2395A>T	XP_024305957.1:p.Asn799Tyr
XR_001751866.1:n.3288A>T
XR_933244.1:n.3461A>T
XR_933244.2:n.3461A>T
XR_933245.1:n.3461A>T
XR_933245.2:n.3461A>T
XR_933246.1:n.3288A>T