Canonical Allele Identifier: CA397433831

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89762007A>G , CM000678.2:g.89762007A>G	GRCh38
NC_000016.9:g.89828415A>G , CM000678.1:g.89828415A>G	GRCh37
NC_000016.8:g.88355916A>G	NCBI36
NG_011706.1:g.59651T>C , LRG_495:g.59651T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.2794T>C MANE Select	NP_000126.2:p.Trp932Arg
ENST00000389301.8:c.2794T>C MANE Select	ENSP00000373952.3:p.Trp932Arg
NM_000135.2:c.2794T>C , LRG_495t1:c.2794T>C	NP_000126.2:p.Trp932Arg
NM_000135.3:c.2794T>C	NP_000126.2:p.Trp932Arg
NM_001286167.1:c.2794T>C	NP_001273096.1:p.Trp932Arg
NM_001286167.2:c.2794T>C	NP_001273096.1:p.Trp932Arg
NM_001286167.3:c.2794T>C	NP_001273096.1:p.Trp932Arg
ENST00000305699.15:n.166T>C
ENST00000389301.7:c.2794T>C	ENSP00000373952.3:p.Trp932Arg
ENST00000561660.1:c.171T>C
ENST00000561667.2:c.*1401T>C	ENSP00000512522.1:n.*1401T>C
ENST00000563318.1:c.356T>C
ENST00000563510.5:c.313T>C
ENST00000564475.6:c.2794T>C	ENSP00000454977.2:p.Trp932Arg
ENST00000567510.2:c.1493T>C	ENSP00000455969.1:n.1493T>C
ENST00000567988.5:c.131T>C
ENST00000568369.5:c.2794T>C	ENSP00000456829.1:p.Trp932Arg
ENST00000568369.6:c.2794T>C	ENSP00000456829.1:p.Trp932Arg
ENST00000696274.1:n.2755T>C
ENST00000696275.1:c.*2029T>C	ENSP00000512517.1:n.*2029T>C
ENST00000696276.1:n.2837T>C
ENST00000696286.1:c.2794T>C	ENSP00000512523.1:p.Trp932Arg
ENST00000696287.1:c.2794T>C	ENSP00000512524.1:p.Trp932Arg
ENST00000696291.1:c.*2498+2883T>C	ENSP00000512530.1:n.*2498+2883T>C
XM_005256294.3:c.2794T>C	XP_005256351.1:p.Trp932Arg
XM_005256294.4:c.2794T>C	XP_005256351.1:p.Trp932Arg
XM_011522945.1:c.2794T>C	XP_011521247.1:p.Trp932Arg
XM_011522945.2:c.2794T>C	XP_011521247.1:p.Trp932Arg
XM_011522946.1:c.1771T>C	XP_011521248.1:p.Trp591Arg
XM_011522946.3:c.1771T>C	XP_011521248.1:p.Trp591Arg
XM_011522947.1:c.1771T>C	XP_011521249.1:p.Trp591Arg
XM_011522947.2:c.1771T>C	XP_011521249.1:p.Trp591Arg
XM_017023044.2:c.2794T>C	XP_016878533.1:p.Trp932Arg
XM_017023045.1:c.2794T>C	XP_016878534.1:p.Trp932Arg
XM_024450189.1:c.1771T>C	XP_024305957.1:p.Trp591Arg
XR_001751866.1:n.2837T>C
XR_933244.1:n.2837T>C
XR_933244.2:n.2837T>C
XR_933245.1:n.2837T>C
XR_933245.2:n.2837T>C
XR_933246.1:n.2837T>C