Canonical Allele Identifier: CA8251241

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89748714T>C , CM000678.2:g.89748714T>C	GRCh38
NC_000016.9:g.89815122T>C , CM000678.1:g.89815122T>C	GRCh37
NC_000016.8:g.88342623T>C	NCBI36
NG_011706.1:g.72944A>G , LRG_495:g.72944A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3293A>G MANE Select	NP_000126.2:p.Glu1098Gly
ENST00000389301.8:c.3293A>G MANE Select	ENSP00000373952.3:p.Glu1098Gly
NM_000135.2:c.3293A>G , LRG_495t1:c.3293A>G	NP_000126.2:p.Glu1098Gly
NM_000135.3:c.3293A>G	NP_000126.2:p.Glu1098Gly
NM_001286167.1:c.3293A>G	NP_001273096.1:p.Glu1098Gly
NM_001286167.2:c.3293A>G	NP_001273096.1:p.Glu1098Gly
NM_001286167.3:c.3293A>G	NP_001273096.1:p.Glu1098Gly
ENST00000305699.15:n.536A>G
ENST00000389301.7:c.3293A>G	ENSP00000373952.3:p.Glu1098Gly
ENST00000561660.1:c.497A>G
ENST00000561667.2:c.*1771A>G	ENSP00000512522.1:n.*1771A>G
ENST00000564475.6:c.3293A>G	ENSP00000454977.2:p.Glu1098Gly
ENST00000567510.2:c.1863A>G	ENSP00000455969.1:n.1863A>G
ENST00000567988.5:c.545A>G
ENST00000568369.5:c.3293A>G	ENSP00000456829.1:p.Glu1098Gly
ENST00000568369.6:c.3293A>G	ENSP00000456829.1:p.Glu1098Gly
ENST00000568626.1:c.141A>G
ENST00000568983.5:n.121A>G
ENST00000568983.6:n.312A>G
ENST00000696274.1:n.3254A>G
ENST00000696275.1:c.*2528A>G	ENSP00000512517.1:n.*2528A>G
ENST00000696286.1:c.3293A>G	ENSP00000512523.1:p.Glu1098Gly
ENST00000696287.1:c.3164A>G	ENSP00000512524.1:p.Glu1055Gly
ENST00000696291.1:c.*2725A>G	ENSP00000512530.1:n.*2725A>G
XM_005256294.3:c.3293A>G	XP_005256351.1:p.Glu1098Gly
XM_005256294.4:c.3293A>G	XP_005256351.1:p.Glu1098Gly
XM_011522945.1:c.3164A>G	XP_011521247.1:p.Glu1055Gly
XM_011522945.2:c.3164A>G	XP_011521247.1:p.Glu1055Gly
XM_011522946.1:c.2270A>G	XP_011521248.1:p.Glu757Gly
XM_011522946.3:c.2270A>G	XP_011521248.1:p.Glu757Gly
XM_011522947.1:c.2270A>G	XP_011521249.1:p.Glu757Gly
XM_011522947.2:c.2270A>G	XP_011521249.1:p.Glu757Gly
XM_017023044.2:c.3164A>G	XP_016878533.1:p.Glu1055Gly
XM_024450189.1:c.2270A>G	XP_024305957.1:p.Glu757Gly
XR_001751866.1:n.3163A>G
XR_933244.1:n.3336A>G
XR_933244.2:n.3336A>G
XR_933245.1:n.3336A>G
XR_933245.2:n.3336A>G
XR_933246.1:n.3163A>G