Canonical Allele Identifier: CA397463556

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89791402C>G , CM000678.2:g.89791402C>G	GRCh38
NC_000016.9:g.89857810C>G , CM000678.1:g.89857810C>G	GRCh37
NC_000016.8:g.88385311C>G	NCBI36
NG_011706.1:g.30256G>C , LRG_495:g.30256G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.1359+1G>C MANE Select	NP_000126.2:n.1359+1G>C
ENST00000389301.8:c.1359+1G>C MANE Select	ENSP00000373952.3:n.1359+1G>C
NM_000135.2:c.1359+1G>C , LRG_495t1:c.1359+1G>C	NP_000126.2:n.1359+1G>C
NM_000135.3:c.1359+1G>C	NP_000126.2:n.1359+1G>C
NM_001286167.1:c.1359+1G>C	NP_001273096.1:n.1359+1G>C
NM_001286167.2:c.1359+1G>C	NP_001273096.1:n.1359+1G>C
NM_001286167.3:c.1359+1G>C	NP_001273096.1:n.1359+1G>C
ENST00000389301.7:c.1359+1G>C	ENSP00000373952.3:n.1359+1G>C
ENST00000561667.2:c.1359+1G>C	ENSP00000512522.1:n.1359+1G>C
ENST00000563767.1:n.220G>C
ENST00000563767.2:n.1255G>C
ENST00000564475.6:c.1359+1G>C	ENSP00000454977.2:n.1359+1G>C
ENST00000567205.2:c.1359+1G>C	ENSP00000457027.2:n.1359+1G>C
ENST00000567284.7:n.1402+1G>C
ENST00000568369.5:c.1359+1G>C	ENSP00000456829.1:n.1359+1G>C
ENST00000568369.6:c.1359+1G>C	ENSP00000456829.1:n.1359+1G>C
ENST00000696274.1:n.1320+1G>C
ENST00000696275.1:c.*594+1G>C	ENSP00000512517.1:n.*594+1G>C
ENST00000696276.1:n.1402+1G>C
ENST00000696277.1:c.1359+1G>C	ENSP00000512518.1:n.1359+1G>C
ENST00000696286.1:c.1359+1G>C	ENSP00000512523.1:n.1359+1G>C
ENST00000696287.1:c.1359+1G>C	ENSP00000512524.1:n.1359+1G>C
ENST00000696291.1:c.*703+1G>C	ENSP00000512530.1:n.*703+1G>C
ENST00000696292.1:c.1440G>C	ENSP00000512531.1:n.1440G>C
XM_005256294.3:c.1359+1G>C	XP_005256351.1:n.1359+1G>C
XM_005256294.4:c.1359+1G>C	XP_005256351.1:n.1359+1G>C
XM_011522945.1:c.1359+1G>C	XP_011521247.1:n.1359+1G>C
XM_011522945.2:c.1359+1G>C	XP_011521247.1:n.1359+1G>C
XM_011522946.1:c.336+1G>C	XP_011521248.1:n.336+1G>C
XM_011522946.3:c.336+1G>C	XP_011521248.1:n.336+1G>C
XM_011522947.1:c.336+1G>C	XP_011521249.1:n.336+1G>C
XM_011522947.2:c.336+1G>C	XP_011521249.1:n.336+1G>C
XM_011522948.1:c.1359+1G>C	XP_011521250.1:n.1359+1G>C
XM_011522948.2:c.1359+1G>C	XP_011521250.1:n.1359+1G>C
XM_017023044.2:c.1359+1G>C	XP_016878533.1:n.1359+1G>C
XM_017023045.1:c.1359+1G>C	XP_016878534.1:n.1359+1G>C
XM_017023046.1:c.1225+525G>C	XP_016878535.1:n.1225+525G>C
XM_024450189.1:c.336+1G>C	XP_024305957.1:n.336+1G>C
XR_001751866.1:n.1402+1G>C
XR_001751867.1:n.1402+1G>C
XR_002957793.1:n.1531+1G>C
XR_933244.1:n.1402+1G>C
XR_933244.2:n.1402+1G>C
XR_933245.1:n.1402+1G>C
XR_933245.2:n.1402+1G>C
XR_933246.1:n.1402+1G>C
XR_933247.1:n.1402+1G>C
XR_933247.2:n.1402+1G>C