Canonical Allele Identifier: CA397486332

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89748727T>G , CM000678.2:g.89748727T>G	GRCh38
NC_000016.9:g.89815135T>G , CM000678.1:g.89815135T>G	GRCh37
NC_000016.8:g.88342636T>G	NCBI36
NG_011706.1:g.72931A>C , LRG_495:g.72931A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3280A>C MANE Select	NP_000126.2:p.Ser1094Arg
ENST00000389301.8:c.3280A>C MANE Select	ENSP00000373952.3:p.Ser1094Arg
NM_000135.2:c.3280A>C , LRG_495t1:c.3280A>C	NP_000126.2:p.Ser1094Arg
NM_000135.3:c.3280A>C	NP_000126.2:p.Ser1094Arg
NM_001286167.1:c.3280A>C	NP_001273096.1:p.Ser1094Arg
NM_001286167.2:c.3280A>C	NP_001273096.1:p.Ser1094Arg
NM_001286167.3:c.3280A>C	NP_001273096.1:p.Ser1094Arg
ENST00000305699.15:n.523A>C
ENST00000389301.7:c.3280A>C	ENSP00000373952.3:p.Ser1094Arg
ENST00000561660.1:c.484A>C
ENST00000561667.2:c.*1758A>C	ENSP00000512522.1:n.*1758A>C
ENST00000564475.6:c.3280A>C	ENSP00000454977.2:p.Ser1094Arg
ENST00000567510.2:c.1850A>C	ENSP00000455969.1:n.1850A>C
ENST00000567988.5:c.532A>C
ENST00000568369.5:c.3280A>C	ENSP00000456829.1:p.Ser1094Arg
ENST00000568369.6:c.3280A>C	ENSP00000456829.1:p.Ser1094Arg
ENST00000568626.1:c.128A>C
ENST00000568983.5:n.108A>C
ENST00000568983.6:n.299A>C
ENST00000696274.1:n.3241A>C
ENST00000696275.1:c.*2515A>C	ENSP00000512517.1:n.*2515A>C
ENST00000696286.1:c.3280A>C	ENSP00000512523.1:p.Ser1094Arg
ENST00000696287.1:c.3151A>C	ENSP00000512524.1:p.Ser1051Arg
ENST00000696291.1:c.*2712A>C	ENSP00000512530.1:n.*2712A>C
XM_005256294.3:c.3280A>C	XP_005256351.1:p.Ser1094Arg
XM_005256294.4:c.3280A>C	XP_005256351.1:p.Ser1094Arg
XM_011522945.1:c.3151A>C	XP_011521247.1:p.Ser1051Arg
XM_011522945.2:c.3151A>C	XP_011521247.1:p.Ser1051Arg
XM_011522946.1:c.2257A>C	XP_011521248.1:p.Ser753Arg
XM_011522946.3:c.2257A>C	XP_011521248.1:p.Ser753Arg
XM_011522947.1:c.2257A>C	XP_011521249.1:p.Ser753Arg
XM_011522947.2:c.2257A>C	XP_011521249.1:p.Ser753Arg
XM_017023044.2:c.3151A>C	XP_016878533.1:p.Ser1051Arg
XM_024450189.1:c.2257A>C	XP_024305957.1:p.Ser753Arg
XR_001751866.1:n.3150A>C
XR_933244.1:n.3323A>C
XR_933244.2:n.3323A>C
XR_933245.1:n.3323A>C
XR_933245.2:n.3323A>C
XR_933246.1:n.3150A>C