Canonical Allele Identifier: CA8251154
Community Standard Title: NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
Gene: FANCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89746668C>T , CM000678.2:g.89746668C>T GRCh38
NC_000016.9:g.89813076C>T , CM000678.1:g.89813076C>T GRCh37
NC_000016.8:g.88340577C>T NCBI36
NG_011706.1:g.74990G>A , LRG_495:g.74990G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.3429G>A MANE Select NP_000126.2:p.Leu1143=
ENST00000389301.8:c.3429G>A MANE Select ENSP00000373952.3:p.Leu1143=
NM_000135.2:c.3429G>A , LRG_495t1:c.3429G>A NP_000126.2:p.Leu1143=
NM_000135.3:c.3429G>A NP_000126.2:p.Leu1143=
NM_001286167.1:c.3429G>A NP_001273096.1:p.Leu1143=
NM_001286167.2:c.3429G>A NP_001273096.1:p.Leu1143=
NM_001286167.3:c.3429G>A NP_001273096.1:p.Leu1143=
ENST00000305699.15:n.672G>A
ENST00000389301.7:c.3429G>A ENSP00000373952.3:p.Leu1143=
ENST00000561660.1:c.633G>A
ENST00000561667.2:c.*1907G>A ENSP00000512522.1:n.*1907G>A
ENST00000564475.6:c.3429G>A ENSP00000454977.2:p.Leu1143=
ENST00000567510.2:c.1999G>A ENSP00000455969.1:n.1999G>A
ENST00000567988.5:c.681G>A
ENST00000568369.5:c.3429G>A ENSP00000456829.1:p.Leu1143=
ENST00000568369.6:c.3429G>A ENSP00000456829.1:p.Leu1143=
ENST00000568626.1:c.277G>A
ENST00000568983.5:n.257G>A
ENST00000568983.6:n.448G>A
ENST00000696274.1:n.3390G>A
ENST00000696275.1:c.*2664G>A ENSP00000512517.1:n.*2664G>A
ENST00000696286.1:c.3429G>A ENSP00000512523.1:p.Leu1143=
ENST00000696287.1:c.3300G>A ENSP00000512524.1:p.Leu1100=
ENST00000696291.1:c.*2861G>A ENSP00000512530.1:n.*2861G>A
XM_005256294.3:c.3429G>A XP_005256351.1:p.Leu1143=
XM_005256294.4:c.3429G>A XP_005256351.1:p.Leu1143=
XM_011522945.1:c.3300G>A XP_011521247.1:p.Leu1100=
XM_011522945.2:c.3300G>A XP_011521247.1:p.Leu1100=
XM_011522946.1:c.2406G>A XP_011521248.1:p.Leu802=
XM_011522946.3:c.2406G>A XP_011521248.1:p.Leu802=
XM_011522947.1:c.2406G>A XP_011521249.1:p.Leu802=
XM_011522947.2:c.2406G>A XP_011521249.1:p.Leu802=
XM_017023044.2:c.3300G>A XP_016878533.1:p.Leu1100=
XM_024450189.1:c.2406G>A XP_024305957.1:p.Leu802=
XR_001751866.1:n.3299G>A
XR_933244.1:n.3472G>A
XR_933244.2:n.3472G>A
XR_933245.1:n.3472G>A
XR_933245.2:n.3472G>A
XR_933246.1:n.3299G>A