Canonical Allele Identifier: CA397486431

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89749736T>C , CM000678.2:g.89749736T>C	GRCh38
NC_000016.9:g.89816144T>C , CM000678.1:g.89816144T>C	GRCh37
NC_000016.8:g.88343645T>C	NCBI36
NG_011706.1:g.71922A>G , LRG_495:g.71922A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3233A>G MANE Select	NP_000126.2:p.Tyr1078Cys
ENST00000389301.8:c.3233A>G MANE Select	ENSP00000373952.3:p.Tyr1078Cys
NM_000135.2:c.3233A>G , LRG_495t1:c.3233A>G	NP_000126.2:p.Tyr1078Cys
NM_000135.3:c.3233A>G	NP_000126.2:p.Tyr1078Cys
NM_001286167.1:c.3233A>G	NP_001273096.1:p.Tyr1078Cys
NM_001286167.2:c.3233A>G	NP_001273096.1:p.Tyr1078Cys
NM_001286167.3:c.3233A>G	NP_001273096.1:p.Tyr1078Cys
ENST00000305699.15:n.476A>G
ENST00000389301.7:c.3233A>G	ENSP00000373952.3:p.Tyr1078Cys
ENST00000561660.1:c.444-969A>G
ENST00000561667.2:c.*1711A>G	ENSP00000512522.1:n.*1711A>G
ENST00000563510.5:c.623A>G
ENST00000564475.6:c.3233A>G	ENSP00000454977.2:p.Tyr1078Cys
ENST00000567510.2:c.1803A>G	ENSP00000455969.1:n.1803A>G
ENST00000567988.5:c.485A>G
ENST00000568369.5:c.3233A>G	ENSP00000456829.1:p.Tyr1078Cys
ENST00000568369.6:c.3233A>G	ENSP00000456829.1:p.Tyr1078Cys
ENST00000568626.1:c.81A>G
ENST00000568983.5:n.61A>G
ENST00000568983.6:n.252A>G
ENST00000696274.1:n.3194A>G
ENST00000696275.1:c.*2468A>G	ENSP00000512517.1:n.*2468A>G
ENST00000696286.1:c.3233A>G	ENSP00000512523.1:p.Tyr1078Cys
ENST00000696287.1:c.3104A>G	ENSP00000512524.1:p.Tyr1035Cys
ENST00000696291.1:c.*2665A>G	ENSP00000512530.1:n.*2665A>G
XM_005256294.3:c.3233A>G	XP_005256351.1:p.Tyr1078Cys
XM_005256294.4:c.3233A>G	XP_005256351.1:p.Tyr1078Cys
XM_011522945.1:c.3104A>G	XP_011521247.1:p.Tyr1035Cys
XM_011522945.2:c.3104A>G	XP_011521247.1:p.Tyr1035Cys
XM_011522946.1:c.2210A>G	XP_011521248.1:p.Tyr737Cys
XM_011522946.3:c.2210A>G	XP_011521248.1:p.Tyr737Cys
XM_011522947.1:c.2210A>G	XP_011521249.1:p.Tyr737Cys
XM_011522947.2:c.2210A>G	XP_011521249.1:p.Tyr737Cys
XM_017023044.2:c.3104A>G	XP_016878533.1:p.Tyr1035Cys
XM_024450189.1:c.2210A>G	XP_024305957.1:p.Tyr737Cys
XR_001751866.1:n.3110-969A>G
XR_933244.1:n.3276A>G
XR_933244.2:n.3276A>G
XR_933245.1:n.3276A>G
XR_933245.2:n.3276A>G
XR_933246.1:n.3110-969A>G