Canonical Allele Identifier: CA397485840

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89746597A>T , CM000678.2:g.89746597A>T	GRCh38
NC_000016.9:g.89813005A>T , CM000678.1:g.89813005A>T	GRCh37
NC_000016.8:g.88340506A>T	NCBI36
NG_011706.1:g.75061T>A , LRG_495:g.75061T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3500T>A MANE Select	NP_000126.2:p.Leu1167Ter
ENST00000389301.8:c.3500T>A MANE Select	ENSP00000373952.3:p.Leu1167Ter
NM_000135.2:c.3500T>A , LRG_495t1:c.3500T>A	NP_000126.2:p.Leu1167Ter
NM_000135.3:c.3500T>A	NP_000126.2:p.Leu1167Ter
NM_001286167.1:c.3500T>A	NP_001273096.1:p.Leu1167Ter
NM_001286167.2:c.3500T>A	NP_001273096.1:p.Leu1167Ter
NM_001286167.3:c.3500T>A	NP_001273096.1:p.Leu1167Ter
ENST00000305699.15:n.743T>A
ENST00000389301.7:c.3500T>A	ENSP00000373952.3:p.Leu1167Ter
ENST00000561660.1:c.704T>A
ENST00000561667.2:c.*1978T>A	ENSP00000512522.1:n.*1978T>A
ENST00000564475.6:c.3500T>A	ENSP00000454977.2:p.Leu1167Ter
ENST00000567510.2:c.2070T>A	ENSP00000455969.1:n.2070T>A
ENST00000567988.5:c.752T>A
ENST00000568369.5:c.3500T>A	ENSP00000456829.1:p.Leu1167Ter
ENST00000568369.6:c.3500T>A	ENSP00000456829.1:p.Leu1167Ter
ENST00000568626.1:c.348T>A
ENST00000568983.5:n.328T>A
ENST00000568983.6:n.519T>A
ENST00000696274.1:n.3461T>A
ENST00000696275.1:c.*2735T>A	ENSP00000512517.1:n.*2735T>A
ENST00000696286.1:c.3500T>A	ENSP00000512523.1:p.Leu1167Ter
ENST00000696287.1:c.3371T>A	ENSP00000512524.1:p.Leu1124Ter
ENST00000696291.1:c.*2932T>A	ENSP00000512530.1:n.*2932T>A
XM_005256294.3:c.3500T>A	XP_005256351.1:p.Leu1167Ter
XM_005256294.4:c.3500T>A	XP_005256351.1:p.Leu1167Ter
XM_011522945.1:c.3371T>A	XP_011521247.1:p.Leu1124Ter
XM_011522945.2:c.3371T>A	XP_011521247.1:p.Leu1124Ter
XM_011522946.1:c.2477T>A	XP_011521248.1:p.Leu826Ter
XM_011522946.3:c.2477T>A	XP_011521248.1:p.Leu826Ter
XM_011522947.1:c.2477T>A	XP_011521249.1:p.Leu826Ter
XM_011522947.2:c.2477T>A	XP_011521249.1:p.Leu826Ter
XM_017023044.2:c.3371T>A	XP_016878533.1:p.Leu1124Ter
XM_024450189.1:c.2477T>A	XP_024305957.1:p.Leu826Ter
XR_001751866.1:n.3370T>A
XR_933244.1:n.3543T>A
XR_933244.2:n.3543T>A
XR_933245.1:n.3543T>A
XR_933245.2:n.3543T>A
XR_933246.1:n.3370T>A