Canonical Allele Identifier: CA8251019

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89742869A>C , CM000678.2:g.89742869A>C	GRCh38
NC_000016.9:g.89809277A>C , CM000678.1:g.89809277A>C	GRCh37
NC_000016.8:g.88336778A>C	NCBI36
NG_011706.1:g.78789T>G , LRG_495:g.78789T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3696T>G MANE Select	NP_000126.2:p.Phe1232Leu
ENST00000389301.8:c.3696T>G MANE Select	ENSP00000373952.3:p.Phe1232Leu
NM_000135.2:c.3696T>G , LRG_495t1:c.3696T>G	NP_000126.2:p.Phe1232Leu
NM_000135.3:c.3696T>G	NP_000126.2:p.Phe1232Leu
NM_001286167.1:c.3696T>G	NP_001273096.1:p.Phe1232Leu
NM_001286167.2:c.3696T>G	NP_001273096.1:p.Phe1232Leu
NM_001286167.3:c.3696T>G	NP_001273096.1:p.Phe1232Leu
ENST00000305699.15:n.939T>G
ENST00000389301.7:c.3696T>G	ENSP00000373952.3:p.Phe1232Leu
ENST00000561667.2:c.*2174T>G	ENSP00000512522.1:n.*2174T>G
ENST00000564475.5:c.26T>G
ENST00000564475.6:c.3696T>G	ENSP00000454977.2:p.Phe1232Leu
ENST00000564969.5:n.51-2003T>G
ENST00000567510.2:c.2266T>G	ENSP00000455969.1:n.2266T>G
ENST00000567879.5:c.174T>G	ENSP00000457006.1:p.Phe58Leu
ENST00000568369.5:c.3696T>G	ENSP00000456829.1:p.Phe1232Leu
ENST00000568369.6:c.3696T>G	ENSP00000456829.1:p.Phe1232Leu
ENST00000568626.1:c.475-2003T>G
ENST00000696274.1:n.3657T>G
ENST00000696275.1:c.*2931T>G	ENSP00000512517.1:n.*2931T>G
ENST00000696286.1:c.3696T>G	ENSP00000512523.1:p.Phe1232Leu
ENST00000696287.1:c.3567T>G	ENSP00000512524.1:p.Phe1189Leu
ENST00000696291.1:c.*3128T>G	ENSP00000512530.1:n.*3128T>G
XM_005256294.3:c.3696T>G	XP_005256351.1:p.Phe1232Leu
XM_005256294.4:c.3696T>G	XP_005256351.1:p.Phe1232Leu
XM_011522945.1:c.3567T>G	XP_011521247.1:p.Phe1189Leu
XM_011522945.2:c.3567T>G	XP_011521247.1:p.Phe1189Leu
XM_011522946.1:c.2673T>G	XP_011521248.1:p.Phe891Leu
XM_011522946.3:c.2673T>G	XP_011521248.1:p.Phe891Leu
XM_011522947.1:c.2673T>G	XP_011521249.1:p.Phe891Leu
XM_011522947.2:c.2673T>G	XP_011521249.1:p.Phe891Leu
XM_017023044.2:c.3567T>G	XP_016878533.1:p.Phe1189Leu
XM_024450189.1:c.2673T>G	XP_024305957.1:p.Phe891Leu
XR_001751866.1:n.3566T>G
XR_933244.1:n.3739T>G
XR_933244.2:n.3739T>G
XR_933245.1:n.3670-2003T>G
XR_933245.2:n.3670-2003T>G
XR_933246.1:n.3566T>G