Canonical Allele Identifier: CA397486312

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89748719C>G , CM000678.2:g.89748719C>G	GRCh38
NC_000016.9:g.89815127C>G , CM000678.1:g.89815127C>G	GRCh37
NC_000016.8:g.88342628C>G	NCBI36
NG_011706.1:g.72939G>C , LRG_495:g.72939G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3288G>C MANE Select	NP_000126.2:p.Gln1096His
ENST00000389301.8:c.3288G>C MANE Select	ENSP00000373952.3:p.Gln1096His
NM_000135.2:c.3288G>C , LRG_495t1:c.3288G>C	NP_000126.2:p.Gln1096His
NM_000135.3:c.3288G>C	NP_000126.2:p.Gln1096His
NM_001286167.1:c.3288G>C	NP_001273096.1:p.Gln1096His
NM_001286167.2:c.3288G>C	NP_001273096.1:p.Gln1096His
NM_001286167.3:c.3288G>C	NP_001273096.1:p.Gln1096His
ENST00000305699.15:n.531G>C
ENST00000389301.7:c.3288G>C	ENSP00000373952.3:p.Gln1096His
ENST00000561660.1:c.492G>C
ENST00000561667.2:c.*1766G>C	ENSP00000512522.1:n.*1766G>C
ENST00000564475.6:c.3288G>C	ENSP00000454977.2:p.Gln1096His
ENST00000567510.2:c.1858G>C	ENSP00000455969.1:n.1858G>C
ENST00000567988.5:c.540G>C
ENST00000568369.5:c.3288G>C	ENSP00000456829.1:p.Gln1096His
ENST00000568369.6:c.3288G>C	ENSP00000456829.1:p.Gln1096His
ENST00000568626.1:c.136G>C
ENST00000568983.5:n.116G>C
ENST00000568983.6:n.307G>C
ENST00000696274.1:n.3249G>C
ENST00000696275.1:c.*2523G>C	ENSP00000512517.1:n.*2523G>C
ENST00000696286.1:c.3288G>C	ENSP00000512523.1:p.Gln1096His
ENST00000696287.1:c.3159G>C	ENSP00000512524.1:p.Gln1053His
ENST00000696291.1:c.*2720G>C	ENSP00000512530.1:n.*2720G>C
XM_005256294.3:c.3288G>C	XP_005256351.1:p.Gln1096His
XM_005256294.4:c.3288G>C	XP_005256351.1:p.Gln1096His
XM_011522945.1:c.3159G>C	XP_011521247.1:p.Gln1053His
XM_011522945.2:c.3159G>C	XP_011521247.1:p.Gln1053His
XM_011522946.1:c.2265G>C	XP_011521248.1:p.Gln755His
XM_011522946.3:c.2265G>C	XP_011521248.1:p.Gln755His
XM_011522947.1:c.2265G>C	XP_011521249.1:p.Gln755His
XM_011522947.2:c.2265G>C	XP_011521249.1:p.Gln755His
XM_017023044.2:c.3159G>C	XP_016878533.1:p.Gln1053His
XM_024450189.1:c.2265G>C	XP_024305957.1:p.Gln755His
XR_001751866.1:n.3158G>C
XR_933244.1:n.3331G>C
XR_933244.2:n.3331G>C
XR_933245.1:n.3331G>C
XR_933245.2:n.3331G>C
XR_933246.1:n.3158G>C