Canonical Allele Identifier: CA497379532

Gene: FANCA

Linked Data

• ClinVar Variation Id: 1119282
• ClinVar RCV Id: RCV001448660
• dbSNP Id: rs2143680951
• MyVariant Identifiers: chr16:g.89877453T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89811045T>G , CM000678.2:g.89811045T>G	GRCh38
NC_000016.9:g.89877453T>G , CM000678.1:g.89877453T>G	GRCh37
NC_000016.8:g.88404954T>G	NCBI36
NG_011706.1:g.10613A>C , LRG_495:g.10613A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.310A>C	ENSP00000512522.1:p.Arg104=
ENST00000563767.2:n.145A>C
ENST00000564475.6:c.310A>C	ENSP00000454977.2:p.Arg104=
ENST00000567205.2:c.310A>C	ENSP00000457027.2:p.Arg104=
ENST00000567284.7:n.353A>C
ENST00000567621.6:c.310A>C	ENSP00000456762.2:p.Arg104=
ENST00000568369.6:c.310A>C	ENSP00000456829.1:p.Arg104=
ENST00000696275.1:c.310A>C	ENSP00000512517.1:p.Arg104=
ENST00000696276.1:n.353A>C
ENST00000696277.1:c.310A>C	ENSP00000512518.1:p.Arg104=
ENST00000696286.1:c.310A>C	ENSP00000512523.1:p.Arg104=
ENST00000696287.1:c.310A>C	ENSP00000512524.1:p.Arg104=
ENST00000696288.1:c.341A>C	ENSP00000512525.1:n.341A>C
ENST00000696291.1:c.310A>C	ENSP00000512530.1:p.Arg104=
ENST00000696292.1:c.175A>C	ENSP00000512531.1:n.175A>C
ENST00000696293.1:c.167A>C	ENSP00000512532.1:n.167A>C
ENST00000696294.1:c.145A>C	ENSP00000512533.1:p.Arg49=
ENST00000696295.1:c.145A>C	ENSP00000512534.1:p.Arg49=
ENST00000696296.1:c.145A>C	ENSP00000512535.1:p.Arg49=
ENST00000389301.8:c.310A>C MANE Select	ENSP00000373952.3:p.Arg104=
ENST00000389301.7:c.310A>C	ENSP00000373952.3:p.Arg104=
ENST00000389302.7:c.310A>C	ENSP00000373953.3:p.Arg104=
ENST00000534992.5:c.310A>C	ENSP00000443675.1:p.Arg104=
ENST00000543736.5:c.310A>C	ENSP00000443409.1:p.Arg104=
ENST00000563513.1:c.296A>C	ENSP00000455946.1:p.Lys99Thr
ENST00000563673.5:c.310A>C	ENSP00000456443.1:p.Arg104=
ENST00000565582.5:c.223A>C	ENSP00000456722.1:p.Arg75=
ENST00000566889.5:n.892A>C
ENST00000567883.5:n.303A>C
ENST00000567943.1:c.*290A>C	ENSP00000455941.1:n.*290A>C
ENST00000568369.5:c.310A>C	ENSP00000456829.1:p.Arg104=
NM_000135.2:c.310A>C , LRG_495t1:c.310A>C	NP_000126.2:p.Arg104=
NM_001018112.1:c.310A>C	NP_001018122.1:p.Arg104=
NM_001286167.1:c.310A>C	NP_001273096.1:p.Arg104=
XM_005256294.3:c.310A>C	XP_005256351.1:p.Arg104=
XM_011522945.1:c.310A>C	XP_011521247.1:p.Arg104=
XM_011522948.1:c.310A>C	XP_011521250.1:p.Arg104=
XR_933244.1:n.353A>C
XR_933245.1:n.353A>C
XR_933246.1:n.353A>C
XR_933247.1:n.353A>C
NM_000135.3:c.310A>C	NP_000126.2:p.Arg104=
NM_001018112.2:c.310A>C	NP_001018122.1:p.Arg104=
NM_001286167.2:c.310A>C	NP_001273096.1:p.Arg104=
NM_001351830.1:c.310A>C	NP_001338759.1:p.Arg104=
XM_005256294.4:c.310A>C	XP_005256351.1:p.Arg104=
XM_011522945.2:c.310A>C	XP_011521247.1:p.Arg104=
XM_011522946.3:c.-843A>C	XP_011521248.1:n.-843A>C
XM_011522948.2:c.310A>C	XP_011521250.1:p.Arg104=
XM_017023044.2:c.310A>C	XP_016878533.1:p.Arg104=
XM_017023045.1:c.310A>C	XP_016878534.1:p.Arg104=
XM_017023046.1:c.310A>C	XP_016878535.1:p.Arg104=
XR_001751866.1:n.353A>C
XR_001751867.1:n.353A>C
XR_001751868.2:n.353A>C
XR_002957793.1:n.353A>C
XR_933244.2:n.353A>C
XR_933245.2:n.353A>C
XR_933247.2:n.353A>C
NM_000135.4:c.310A>C MANE Select	NP_000126.2:p.Arg104=
NM_001018112.3:c.310A>C	NP_001018122.1:p.Arg104=
NM_001286167.3:c.310A>C	NP_001273096.1:p.Arg104=
NM_001351830.2:c.310A>C	NP_001338759.1:p.Arg104=