Canonical Allele Identifier: CA397479336

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89808341C>T , CM000678.2:g.89808341C>T	GRCh38
NC_000016.9:g.89874749C>T , CM000678.1:g.89874749C>T	GRCh37
NC_000016.8:g.88402250C>T	NCBI36
NG_011706.1:g.13317G>A , LRG_495:g.13317G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.549G>A MANE Select	NP_000126.2:p.Trp183Ter
ENST00000389301.8:c.549G>A MANE Select	ENSP00000373952.3:p.Trp183Ter
NM_000135.2:c.549G>A , LRG_495t1:c.549G>A	NP_000126.2:p.Trp183Ter
NM_000135.3:c.549G>A	NP_000126.2:p.Trp183Ter
NM_001018112.1:c.549G>A	NP_001018122.1:p.Trp183Ter
NM_001018112.2:c.549G>A	NP_001018122.1:p.Trp183Ter
NM_001018112.3:c.549G>A	NP_001018122.1:p.Trp183Ter
NM_001286167.1:c.549G>A	NP_001273096.1:p.Trp183Ter
NM_001286167.2:c.549G>A	NP_001273096.1:p.Trp183Ter
NM_001286167.3:c.549G>A	NP_001273096.1:p.Trp183Ter
NM_001351830.1:c.453G>A	NP_001338759.1:p.Trp151Ter
NM_001351830.2:c.453G>A	NP_001338759.1:p.Trp151Ter
ENST00000389301.7:c.549G>A	ENSP00000373952.3:p.Trp183Ter
ENST00000389302.7:c.549G>A	ENSP00000373953.3:p.Trp183Ter
ENST00000534992.5:c.549G>A	ENSP00000443675.1:p.Trp183Ter
ENST00000543736.5:c.453G>A	ENSP00000443409.1:p.Trp151Ter
ENST00000561667.2:c.549G>A	ENSP00000512522.1:p.Trp183Ter
ENST00000563513.1:c.*190G>A	ENSP00000455946.1:n.*190G>A
ENST00000563673.5:c.549G>A	ENSP00000456443.1:p.Trp183Ter
ENST00000563767.2:n.384G>A
ENST00000564475.6:c.549G>A	ENSP00000454977.2:p.Trp183Ter
ENST00000565582.5:c.462G>A	ENSP00000456722.1:p.Trp154Ter
ENST00000566889.5:n.1131G>A
ENST00000567205.2:c.549G>A	ENSP00000457027.2:p.Trp183Ter
ENST00000567284.7:n.592G>A
ENST00000567621.5:c.26G>A
ENST00000567621.6:c.549G>A	ENSP00000456762.2:p.Trp183Ter
ENST00000568369.5:c.549G>A	ENSP00000456829.1:p.Trp183Ter
ENST00000568369.6:c.549G>A	ENSP00000456829.1:p.Trp183Ter
ENST00000696274.1:n.623G>A
ENST00000696275.1:c.549G>A	ENSP00000512517.1:p.Trp183Ter
ENST00000696276.1:n.592G>A
ENST00000696277.1:c.549G>A	ENSP00000512518.1:p.Trp183Ter
ENST00000696286.1:c.549G>A	ENSP00000512523.1:p.Trp183Ter
ENST00000696287.1:c.549G>A	ENSP00000512524.1:p.Trp183Ter
ENST00000696288.1:c.580G>A	ENSP00000512525.1:n.580G>A
ENST00000696291.1:c.522+2366G>A	ENSP00000512530.1:n.522+2366G>A
ENST00000696292.1:c.414G>A	ENSP00000512531.1:n.414G>A
ENST00000696293.1:c.406G>A	ENSP00000512532.1:n.406G>A
ENST00000696294.1:c.384G>A	ENSP00000512533.1:p.Trp128Ter
ENST00000696295.1:c.384G>A	ENSP00000512534.1:p.Trp128Ter
ENST00000696296.1:c.384G>A	ENSP00000512535.1:p.Trp128Ter
XM_005256294.3:c.549G>A	XP_005256351.1:p.Trp183Ter
XM_005256294.4:c.549G>A	XP_005256351.1:p.Trp183Ter
XM_011522945.1:c.549G>A	XP_011521247.1:p.Trp183Ter
XM_011522945.2:c.549G>A	XP_011521247.1:p.Trp183Ter
XM_011522946.1:c.-604G>A	XP_011521248.1:n.-604G>A
XM_011522946.3:c.-604G>A	XP_011521248.1:n.-604G>A
XM_011522947.1:c.-362G>A	XP_011521249.1:n.-362G>A
XM_011522947.2:c.-362G>A	XP_011521249.1:n.-362G>A
XM_011522948.1:c.549G>A	XP_011521250.1:p.Trp183Ter
XM_011522948.2:c.549G>A	XP_011521250.1:p.Trp183Ter
XM_017023044.2:c.549G>A	XP_016878533.1:p.Trp183Ter
XM_017023045.1:c.549G>A	XP_016878534.1:p.Trp183Ter
XM_017023046.1:c.549G>A	XP_016878535.1:p.Trp183Ter
XM_024450189.1:c.-604G>A	XP_024305957.1:n.-604G>A
XR_001751866.1:n.592G>A
XR_001751867.1:n.592G>A
XR_001751868.2:n.592G>A
XR_002957793.1:n.592G>A
XR_933244.1:n.592G>A
XR_933244.2:n.592G>A
XR_933245.1:n.592G>A
XR_933245.2:n.592G>A
XR_933246.1:n.592G>A
XR_933247.1:n.592G>A
XR_933247.2:n.592G>A