Canonical Allele Identifier: CA397460218

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89784957A>G , CM000678.2:g.89784957A>G	GRCh38
NC_000016.9:g.89851365A>G , CM000678.1:g.89851365A>G	GRCh37
NC_000016.8:g.88378866A>G	NCBI36
NG_011706.1:g.36701T>C , LRG_495:g.36701T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.1367T>C MANE Select	NP_000126.2:p.Phe456Ser
ENST00000389301.8:c.1367T>C MANE Select	ENSP00000373952.3:p.Phe456Ser
NM_000135.2:c.1367T>C , LRG_495t1:c.1367T>C	NP_000126.2:p.Phe456Ser
NM_000135.3:c.1367T>C	NP_000126.2:p.Phe456Ser
NM_001286167.1:c.1367T>C	NP_001273096.1:p.Phe456Ser
NM_001286167.2:c.1367T>C	NP_001273096.1:p.Phe456Ser
NM_001286167.3:c.1367T>C	NP_001273096.1:p.Phe456Ser
ENST00000389301.7:c.1367T>C	ENSP00000373952.3:p.Phe456Ser
ENST00000561667.2:c.1367T>C	ENSP00000512522.1:p.Phe456Ser
ENST00000564475.6:c.1367T>C	ENSP00000454977.2:p.Phe456Ser
ENST00000567205.2:c.1367T>C	ENSP00000457027.2:p.Phe456Ser
ENST00000567284.7:n.1410T>C
ENST00000568369.5:c.1367T>C	ENSP00000456829.1:p.Phe456Ser
ENST00000568369.6:c.1367T>C	ENSP00000456829.1:p.Phe456Ser
ENST00000696274.1:n.1328T>C
ENST00000696275.1:c.*602T>C	ENSP00000512517.1:n.*602T>C
ENST00000696276.1:n.1410T>C
ENST00000696277.1:c.*8T>C	ENSP00000512518.1:n.*8T>C
ENST00000696286.1:c.1367T>C	ENSP00000512523.1:p.Phe456Ser
ENST00000696287.1:c.1367T>C	ENSP00000512524.1:p.Phe456Ser
ENST00000696291.1:c.*711T>C	ENSP00000512530.1:n.*711T>C
XM_005256294.3:c.1367T>C	XP_005256351.1:p.Phe456Ser
XM_005256294.4:c.1367T>C	XP_005256351.1:p.Phe456Ser
XM_011522945.1:c.1367T>C	XP_011521247.1:p.Phe456Ser
XM_011522945.2:c.1367T>C	XP_011521247.1:p.Phe456Ser
XM_011522946.1:c.344T>C	XP_011521248.1:p.Phe115Ser
XM_011522946.3:c.344T>C	XP_011521248.1:p.Phe115Ser
XM_011522947.1:c.344T>C	XP_011521249.1:p.Phe115Ser
XM_011522947.2:c.344T>C	XP_011521249.1:p.Phe115Ser
XM_011522948.1:c.1367T>C	XP_011521250.1:p.Phe456Ser
XM_011522948.2:c.1367T>C	XP_011521250.1:p.Phe456Ser
XM_017023044.2:c.1367T>C	XP_016878533.1:p.Phe456Ser
XM_017023045.1:c.1367T>C	XP_016878534.1:p.Phe456Ser
XM_017023046.1:c.1233T>C	XP_016878535.1:p.Leu411=
XM_024450189.1:c.344T>C	XP_024305957.1:p.Phe115Ser
XR_001751866.1:n.1410T>C
XR_001751867.1:n.1446T>C
XR_002957793.1:n.1539T>C
XR_933244.1:n.1410T>C
XR_933244.2:n.1410T>C
XR_933245.1:n.1410T>C
XR_933245.2:n.1410T>C
XR_933246.1:n.1410T>C
XR_933247.1:n.1410T>C
XR_933247.2:n.1410T>C