Canonical Allele Identifier: CA497195371
Community Standard Title: NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)
Gene: FANCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89746584C>T , CM000678.2:g.89746584C>T GRCh38
NC_000016.9:g.89812992C>T , CM000678.1:g.89812992C>T GRCh37
NC_000016.8:g.88340493C>T NCBI36
NG_011706.1:g.75074G>A , LRG_495:g.75074G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.3513G>A MANE Select NP_000126.2:p.Leu1171=
ENST00000389301.8:c.3513G>A MANE Select ENSP00000373952.3:p.Leu1171=
NM_000135.2:c.3513G>A , LRG_495t1:c.3513G>A NP_000126.2:p.Leu1171=
NM_000135.3:c.3513G>A NP_000126.2:p.Leu1171=
NM_001286167.1:c.3513G>A NP_001273096.1:p.Leu1171=
NM_001286167.2:c.3513G>A NP_001273096.1:p.Leu1171=
NM_001286167.3:c.3513G>A NP_001273096.1:p.Leu1171=
ENST00000305699.15:n.756G>A
ENST00000389301.7:c.3513G>A ENSP00000373952.3:p.Leu1171=
ENST00000561660.1:c.717G>A
ENST00000561667.2:c.*1991G>A ENSP00000512522.1:n.*1991G>A
ENST00000564475.6:c.3513G>A ENSP00000454977.2:p.Leu1171=
ENST00000567510.2:c.2083G>A ENSP00000455969.1:n.2083G>A
ENST00000567988.5:c.765G>A
ENST00000568369.5:c.3513G>A ENSP00000456829.1:p.Leu1171=
ENST00000568369.6:c.3513G>A ENSP00000456829.1:p.Leu1171=
ENST00000568626.1:c.361G>A
ENST00000568983.5:n.341G>A
ENST00000568983.6:n.532G>A
ENST00000696274.1:n.3474G>A
ENST00000696275.1:c.*2748G>A ENSP00000512517.1:n.*2748G>A
ENST00000696286.1:c.3513G>A ENSP00000512523.1:p.Leu1171=
ENST00000696287.1:c.3384G>A ENSP00000512524.1:p.Leu1128=
ENST00000696291.1:c.*2945G>A ENSP00000512530.1:n.*2945G>A
XM_005256294.3:c.3513G>A XP_005256351.1:p.Leu1171=
XM_005256294.4:c.3513G>A XP_005256351.1:p.Leu1171=
XM_011522945.1:c.3384G>A XP_011521247.1:p.Leu1128=
XM_011522945.2:c.3384G>A XP_011521247.1:p.Leu1128=
XM_011522946.1:c.2490G>A XP_011521248.1:p.Leu830=
XM_011522946.3:c.2490G>A XP_011521248.1:p.Leu830=
XM_011522947.1:c.2490G>A XP_011521249.1:p.Leu830=
XM_011522947.2:c.2490G>A XP_011521249.1:p.Leu830=
XM_017023044.2:c.3384G>A XP_016878533.1:p.Leu1128=
XM_024450189.1:c.2490G>A XP_024305957.1:p.Leu830=
XR_001751866.1:n.3383G>A
XR_933244.1:n.3556G>A
XR_933244.2:n.3556G>A
XR_933245.1:n.3556G>A
XR_933245.2:n.3556G>A
XR_933246.1:n.3383G>A