Canonical Allele Identifier: CA8250581
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

ClinVar Variation Id: 321325
dbSNP Id: rs142784426

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738667G>A , CM000678.2:g.89738667G>A GRCh38
NC_000016.9:g.89805075G>A , CM000678.1:g.89805075G>A GRCh37
NC_000016.8:g.88332576G>A NCBI36
NG_011706.1:g.82991C>T , LRG_495:g.82991C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*3048C>T (FANCA) ENSP00000512522.1:n.*3048C>T
ENST00000564475.6:c.*87C>T (FANCA) ENSP00000454977.2:n.*87C>T
ENST00000567510.2:c.2876C>T (FANCA) ENSP00000455969.1:n.2876C>T
ENST00000568369.6:c.*31C>T (FANCA) ENSP00000456829.1:n.*31C>T
ENST00000696274.1:n.4436C>T (FANCA)
ENST00000696275.1:c.*3714C>T (FANCA) ENSP00000512517.1:n.*3714C>T
ENST00000696286.1:c.*215C>T (FANCA) ENSP00000512523.1:n.*215C>T
ENST00000696287.1:c.*87C>T (FANCA) ENSP00000512524.1:n.*87C>T
ENST00000696291.1:c.*3907C>T (FANCA) ENSP00000512530.1:n.*3907C>T
ENST00000389301.8:c.4302C>T (FANCA) MANE Select ENSP00000373952.3:p.Ala1434=
ENST00000443381.7:c.*421G>A (ZNF276) MANE Select ENSP00000415836.2:n.*421G>A
ENST00000289816.9:c.*421G>A (ZNF276) ENSP00000289816.5:n.*421G>A
ENST00000389301.7:c.4302C>T (FANCA) ENSP00000373952.3:p.Ala1434=
ENST00000561722.5:c.522C>T (FANCA) ENSP00000456608.1:p.Ala174=
ENST00000562424.1:n.573C>T (FANCA)
ENST00000563983.5:n.2254G>A (ZNF276)
ENST00000567879.5:c.676C>T (FANCA) ENSP00000457006.1:n.676C>T
ENST00000568369.5:c.*31C>T (FANCA) ENSP00000456829.1:n.*31C>T
NM_000135.2:c.4302C>T , LRG_495t1:c.4302C>T (FANCA) NP_000126.2:p.Ala1434=
NM_001113525.1:c.*421G>A (ZNF276) NP_001106997.1:n.*421G>A
NM_001286167.1:c.*31C>T (FANCA) NP_001273096.1:n.*31C>T
NM_152287.3:c.*421G>A (ZNF276) NP_689500.2:n.*421G>A
NR_110122.1:n.2438G>A (ZNF276)
NR_110126.1:n.2321G>A (ZNF276)
NR_110128.1:n.2244G>A (ZNF276)
NR_110129.1:n.2333G>A (ZNF276)
XR_933244.1:n.4269C>T (FANCA)
XR_933245.1:n.4206C>T (FANCA)
NM_000135.3:c.4302C>T (FANCA) NP_000126.2:p.Ala1434=
NM_001286167.2:c.*31C>T (FANCA) NP_001273096.1:n.*31C>T
XM_005256294.4:c.*87C>T (FANCA) XP_005256351.1:n.*87C>T
XM_011522945.2:c.*87C>T (FANCA) XP_011521247.1:n.*87C>T
XM_011522946.3:c.*87C>T (FANCA) XP_011521248.1:n.*87C>T
XM_011522947.2:c.*87C>T (FANCA) XP_011521249.1:n.*87C>T
XM_017023044.2:c.4173C>T (FANCA) XP_016878533.1:p.Ala1391=
XM_017023890.1:c.*421G>A (ZNF276) XP_016879379.1:n.*421G>A
XM_024450189.1:c.*87C>T (FANCA) XP_024305957.1:n.*87C>T
XR_933244.2:n.4269C>T (FANCA)
XR_933245.2:n.4206C>T (FANCA)
XR_933484.2:n.2432G>A (ZNF276)
NM_000135.4:c.4302C>T (FANCA) MANE Select NP_000126.2:p.Ala1434=
NM_001113525.2:c.*421G>A (ZNF276) MANE Select NP_001106997.1:n.*421G>A
NM_001286167.3:c.*31C>T (FANCA) NP_001273096.1:n.*31C>T
NM_152287.4:c.*421G>A (ZNF276) NP_689500.2:n.*421G>A
NR_110122.2:n.2421G>A (ZNF276)
NR_110126.2:n.2304G>A (ZNF276)
NR_110129.2:n.2338G>A (ZNF276)
NR_110128.2:n.2244G>A (ZNF276)