Canonical Allele Identifier: CA286613931
Community Standard Title: NM_000135.4(FANCA):c.4261-2A>C
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738710T>G , CM000678.2:g.89738710T>G GRCh38
NC_000016.9:g.89805118T>G , CM000678.1:g.89805118T>G GRCh37
NC_000016.8:g.88332619T>G NCBI36
NG_011706.1:g.82948A>C , LRG_495:g.82948A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.4261-2A>C (FANCA) MANE Select NP_000126.2:n.4261-2A>C
NM_001113525.2:c.*464T>G (ZNF276) MANE Select NP_001106997.1:n.*464T>G
ENST00000389301.8:c.4261-2A>C (FANCA) MANE Select ENSP00000373952.3:n.4261-2A>C
ENST00000443381.7:c.*464T>G (ZNF276) MANE Select ENSP00000415836.2:n.*464T>G
NM_000135.2:c.4261-2A>C , LRG_495t1:c.4261-2A>C (FANCA) NP_000126.2:n.4261-2A>C
NM_000135.3:c.4261-2A>C (FANCA) NP_000126.2:n.4261-2A>C
NM_001113525.1:c.*464T>G (ZNF276) NP_001106997.1:n.*464T>G
NM_001286167.1:c.4265-2A>C (FANCA) NP_001273096.1:n.4265-2A>C
NM_001286167.2:c.4265-2A>C (FANCA) NP_001273096.1:n.4265-2A>C
NM_001286167.3:c.4265-2A>C (FANCA) NP_001273096.1:n.4265-2A>C
NM_152287.3:c.*464T>G (ZNF276) NP_689500.2:n.*464T>G
NM_152287.4:c.*464T>G (ZNF276) NP_689500.2:n.*464T>G
NR_110122.1:n.2481T>G (ZNF276)
NR_110122.2:n.2464T>G (ZNF276)
NR_110126.1:n.2364T>G (ZNF276)
NR_110126.2:n.2347T>G (ZNF276)
NR_110128.1:n.2287T>G (ZNF276)
NR_110128.2:n.2287T>G (ZNF276)
NR_110129.1:n.2376T>G (ZNF276)
NR_110129.2:n.2381T>G (ZNF276)
ENST00000289816.9:c.*464T>G (ZNF276) ENSP00000289816.5:n.*464T>G
ENST00000389301.7:c.4261-2A>C (FANCA) ENSP00000373952.3:n.4261-2A>C
ENST00000561667.2:c.*3005A>C (FANCA) ENSP00000512522.1:n.*3005A>C
ENST00000561722.5:c.481-2A>C (FANCA) ENSP00000456608.1:n.481-2A>C
ENST00000562424.1:n.532-2A>C (FANCA)
ENST00000563983.5:n.2297T>G (ZNF276)
ENST00000564475.6:c.*44A>C (FANCA) ENSP00000454977.2:n.*44A>C
ENST00000567510.2:c.2835-2A>C (FANCA) ENSP00000455969.1:n.2835-2A>C
ENST00000567879.5:c.635-2A>C (FANCA) ENSP00000457006.1:n.635-2A>C
ENST00000568369.5:c.4265-2A>C (FANCA) ENSP00000456829.1:n.4265-2A>C
ENST00000568369.6:c.4265-2A>C (FANCA) ENSP00000456829.1:n.4265-2A>C
ENST00000696274.1:n.4393A>C (FANCA)
ENST00000696275.1:c.*3671A>C (FANCA) ENSP00000512517.1:n.*3671A>C
ENST00000696286.1:c.*174-2A>C (FANCA) ENSP00000512523.1:n.*174-2A>C
ENST00000696287.1:c.*44A>C (FANCA) ENSP00000512524.1:n.*44A>C
ENST00000696291.1:c.*3864A>C (FANCA) ENSP00000512530.1:n.*3864A>C
XM_005256294.4:c.*44A>C (FANCA) XP_005256351.1:n.*44A>C
XM_011522945.2:c.*44A>C (FANCA) XP_011521247.1:n.*44A>C
XM_011522946.3:c.*44A>C (FANCA) XP_011521248.1:n.*44A>C
XM_011522947.2:c.*44A>C (FANCA) XP_011521249.1:n.*44A>C
XM_017023044.2:c.4132-2A>C (FANCA) XP_016878533.1:n.4132-2A>C
XM_017023890.1:c.*464T>G (ZNF276) XP_016879379.1:n.*464T>G
XM_024450189.1:c.*44A>C (FANCA) XP_024305957.1:n.*44A>C
XR_933244.1:n.4228-2A>C (FANCA)
XR_933244.2:n.4228-2A>C (FANCA)
XR_933245.1:n.4165-2A>C (FANCA)
XR_933245.2:n.4165-2A>C (FANCA)
XR_933484.2:n.2475T>G (ZNF276)