Canonical Allele Identifier: CA8251499
Gene: FANCA HGNC NCBI

Linked Data

ClinVar Variation Id: 237043
dbSNP Id: rs148250597

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89762002T>C , CM000678.2:g.89762002T>C GRCh38
NC_000016.9:g.89828410T>C , CM000678.1:g.89828410T>C GRCh37
NC_000016.8:g.88355911T>C NCBI36
NG_011706.1:g.59656A>G , LRG_495:g.59656A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*1406A>G ENSP00000512522.1:n.*1406A>G
ENST00000564475.6:c.2799A>G ENSP00000454977.2:p.Leu933=
ENST00000567510.2:c.1498A>G ENSP00000455969.1:n.1498A>G
ENST00000568369.6:c.2799A>G ENSP00000456829.1:p.Leu933=
ENST00000696274.1:n.2760A>G
ENST00000696275.1:c.*2034A>G ENSP00000512517.1:n.*2034A>G
ENST00000696276.1:n.2842A>G
ENST00000696286.1:c.2799A>G ENSP00000512523.1:p.Leu933=
ENST00000696287.1:c.2799A>G ENSP00000512524.1:p.Leu933=
ENST00000696291.1:c.*2498+2888A>G ENSP00000512530.1:n.*2498+2888A>G
ENST00000389301.8:c.2799A>G MANE Select ENSP00000373952.3:p.Leu933=
ENST00000305699.15:n.171A>G
ENST00000389301.7:c.2799A>G ENSP00000373952.3:p.Leu933=
ENST00000561660.1:c.176A>G
ENST00000563318.1:c.361A>G
ENST00000563510.5:c.318A>G
ENST00000567988.5:c.136A>G
ENST00000568369.5:c.2799A>G ENSP00000456829.1:p.Leu933=
NM_000135.2:c.2799A>G , LRG_495t1:c.2799A>G NP_000126.2:p.Leu933=
NM_001286167.1:c.2799A>G NP_001273096.1:p.Leu933=
XM_005256294.3:c.2799A>G XP_005256351.1:p.Leu933=
XM_011522945.1:c.2799A>G XP_011521247.1:p.Leu933=
XM_011522946.1:c.1776A>G XP_011521248.1:p.Leu592=
XM_011522947.1:c.1776A>G XP_011521249.1:p.Leu592=
XR_933244.1:n.2842A>G
XR_933245.1:n.2842A>G
XR_933246.1:n.2842A>G
NM_000135.3:c.2799A>G NP_000126.2:p.Leu933=
NM_001286167.2:c.2799A>G NP_001273096.1:p.Leu933=
XM_005256294.4:c.2799A>G XP_005256351.1:p.Leu933=
XM_011522945.2:c.2799A>G XP_011521247.1:p.Leu933=
XM_011522946.3:c.1776A>G XP_011521248.1:p.Leu592=
XM_011522947.2:c.1776A>G XP_011521249.1:p.Leu592=
XM_017023044.2:c.2799A>G XP_016878533.1:p.Leu933=
XM_017023045.1:c.2799A>G XP_016878534.1:p.Leu933=
XM_024450189.1:c.1776A>G XP_024305957.1:p.Leu592=
XR_001751866.1:n.2842A>G
XR_933244.2:n.2842A>G
XR_933245.2:n.2842A>G
NM_000135.4:c.2799A>G MANE Select NP_000126.2:p.Leu933=
NM_001286167.3:c.2799A>G NP_001273096.1:p.Leu933=