Canonical Allele Identifier: CA397483486
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

ClinVar Variation Id: 456127
ClinVar RCV Id: RCV000534717
dbSNP Id: rs1379441535

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738932G>A , CM000678.2:g.89738932G>A GRCh38
NC_000016.9:g.89805340G>A , CM000678.1:g.89805340G>A GRCh37
NC_000016.8:g.88332841G>A NCBI36
NG_011706.1:g.82726C>T , LRG_495:g.82726C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2783C>T (FANCA) ENSP00000512522.1:n.*2783C>T
ENST00000564475.6:c.4214C>T (FANCA) ENSP00000454977.2:p.Ala1405Val
ENST00000567510.2:c.2784C>T (FANCA) ENSP00000455969.1:n.2784C>T
ENST00000568369.6:c.4214C>T (FANCA) ENSP00000456829.1:p.Ala1405Val
ENST00000696274.1:n.4171C>T (FANCA)
ENST00000696275.1:c.*3449C>T (FANCA) ENSP00000512517.1:n.*3449C>T
ENST00000696286.1:c.*123C>T (FANCA) ENSP00000512523.1:n.*123C>T
ENST00000696287.1:c.4085C>T (FANCA) ENSP00000512524.1:p.Ala1362Val
ENST00000696291.1:c.*3642C>T (FANCA) ENSP00000512530.1:n.*3642C>T
ENST00000389301.8:c.4210C>T (FANCA) MANE Select ENSP00000373952.3:p.Leu1404=
ENST00000443381.7:c.*686G>A (ZNF276) MANE Select ENSP00000415836.2:n.*686G>A
ENST00000289816.9:c.*686G>A (ZNF276) ENSP00000289816.5:n.*686G>A
ENST00000389301.7:c.4210C>T (FANCA) ENSP00000373952.3:p.Leu1404=
ENST00000561722.5:c.436-6C>T (FANCA) ENSP00000456608.1:n.436-6C>T
ENST00000562424.1:n.481C>T (FANCA)
ENST00000563983.5:n.2519G>A (ZNF276)
ENST00000564475.5:c.544C>T (FANCA)
ENST00000564870.1:c.411C>T (FANCA)
ENST00000567879.5:c.584C>T (FANCA) ENSP00000457006.1:p.Ala195Val
ENST00000568369.5:c.4214C>T (FANCA) ENSP00000456829.1:p.Ala1405Val
NM_000135.2:c.4210C>T , LRG_495t1:c.4210C>T (FANCA) NP_000126.2:p.Leu1404=
NM_001113525.1:c.*686G>A (ZNF276) NP_001106997.1:n.*686G>A
NM_001286167.1:c.4214C>T (FANCA) NP_001273096.1:p.Ala1405Val
NM_152287.3:c.*686G>A (ZNF276) NP_689500.2:n.*686G>A
NR_110122.1:n.2703G>A (ZNF276)
NR_110126.1:n.2586G>A (ZNF276)
NR_110128.1:n.2509G>A (ZNF276)
NR_110129.1:n.2598G>A (ZNF276)
XM_005256294.3:c.4214C>T (FANCA) XP_005256351.1:p.Ala1405Val
XM_011522945.1:c.4085C>T (FANCA) XP_011521247.1:p.Ala1362Val
XM_011522946.1:c.3191C>T (FANCA) XP_011521248.1:p.Ala1064Val
XM_011522947.1:c.3191C>T (FANCA) XP_011521249.1:p.Ala1064Val
XR_933244.1:n.4177C>T (FANCA)
XR_933245.1:n.4114C>T (FANCA)
NM_000135.3:c.4210C>T (FANCA) NP_000126.2:p.Leu1404=
NM_001286167.2:c.4214C>T (FANCA) NP_001273096.1:p.Ala1405Val
XM_005256294.4:c.4214C>T (FANCA) XP_005256351.1:p.Ala1405Val
XM_011522945.2:c.4085C>T (FANCA) XP_011521247.1:p.Ala1362Val
XM_011522946.3:c.3191C>T (FANCA) XP_011521248.1:p.Ala1064Val
XM_011522947.2:c.3191C>T (FANCA) XP_011521249.1:p.Ala1064Val
XM_017023044.2:c.4081C>T (FANCA) XP_016878533.1:p.Leu1361=
XM_017023890.1:c.*686G>A (ZNF276) XP_016879379.1:n.*686G>A
XM_024450189.1:c.3191C>T (FANCA) XP_024305957.1:p.Ala1064Val
XR_933244.2:n.4177C>T (FANCA)
XR_933245.2:n.4114C>T (FANCA)
XR_933484.2:n.2697G>A (ZNF276)
NM_000135.4:c.4210C>T (FANCA) MANE Select NP_000126.2:p.Leu1404=
NM_001113525.2:c.*686G>A (ZNF276) MANE Select NP_001106997.1:n.*686G>A
NM_001286167.3:c.4214C>T (FANCA) NP_001273096.1:p.Ala1405Val
NM_152287.4:c.*686G>A (ZNF276) NP_689500.2:n.*686G>A
NR_110122.2:n.2686G>A (ZNF276)
NR_110126.2:n.2569G>A (ZNF276)
NR_110129.2:n.2603G>A (ZNF276)
NR_110128.2:n.2509G>A (ZNF276)