Canonical Allele Identifier: CA397484216
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739117T>G , CM000678.2:g.89739117T>G GRCh38
NC_000016.9:g.89805525T>G , CM000678.1:g.89805525T>G GRCh37
NC_000016.8:g.88333026T>G NCBI36
NG_011706.1:g.82541A>C , LRG_495:g.82541A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2740+16A>C (FANCA) ENSP00000512522.1:n.*2740+16A>C
ENST00000564475.6:c.4171+12A>C (FANCA) ENSP00000454977.2:n.4171+12A>C
ENST00000567510.2:c.2741+12A>C (FANCA) ENSP00000455969.1:n.2741+12A>C
ENST00000568369.6:c.4171+12A>C (FANCA) ENSP00000456829.1:n.4171+12A>C
ENST00000696274.1:n.4128+16A>C (FANCA)
ENST00000696275.1:c.*3406+12A>C (FANCA) ENSP00000512517.1:n.*3406+12A>C
ENST00000696286.1:c.*80+16A>C (FANCA) ENSP00000512523.1:n.*80+16A>C
ENST00000696287.1:c.4042+12A>C (FANCA) ENSP00000512524.1:n.4042+12A>C
ENST00000696291.1:c.*3599+16A>C (FANCA) ENSP00000512530.1:n.*3599+16A>C
ENST00000389301.8:c.4167+16A>C (FANCA) MANE Select ENSP00000373952.3:n.4167+16A>C
ENST00000443381.7:c.*871T>G (ZNF276) MANE Select ENSP00000415836.2:n.*871T>G
ENST00000289816.9:c.*871T>G (ZNF276) ENSP00000289816.5:n.*871T>G
ENST00000389301.7:c.4167+16A>C (FANCA) ENSP00000373952.3:n.4167+16A>C
ENST00000561722.5:c.334A>C (FANCA) ENSP00000456608.1:p.Ser112Arg
ENST00000562424.1:n.438+16A>C (FANCA)
ENST00000563983.5:n.2704T>G (ZNF276)
ENST00000564475.5:c.501+12A>C (FANCA)
ENST00000564870.1:c.368+16A>C (FANCA)
ENST00000567879.5:c.541+21A>C (FANCA) ENSP00000457006.1:n.541+21A>C
ENST00000568369.5:c.4171+12A>C (FANCA) ENSP00000456829.1:n.4171+12A>C
NM_000135.2:c.4167+16A>C , LRG_495t1:c.4167+16A>C (FANCA) NP_000126.2:n.4167+16A>C
NM_001113525.1:c.*871T>G (ZNF276) NP_001106997.1:n.*871T>G
NM_001286167.1:c.4171+12A>C (FANCA) NP_001273096.1:n.4171+12A>C
NM_152287.3:c.*871T>G (ZNF276) NP_689500.2:n.*871T>G
NR_110122.1:n.2888T>G (ZNF276)
NR_110126.1:n.2771T>G (ZNF276)
NR_110128.1:n.2694T>G (ZNF276)
NR_110129.1:n.2783T>G (ZNF276)
XM_005256294.3:c.4171+12A>C (FANCA) XP_005256351.1:n.4171+12A>C
XM_011522945.1:c.4042+12A>C (FANCA) XP_011521247.1:n.4042+12A>C
XM_011522946.1:c.3148+12A>C (FANCA) XP_011521248.1:n.3148+12A>C
XM_011522947.1:c.3148+12A>C (FANCA) XP_011521249.1:n.3148+12A>C
XR_933244.1:n.4134+16A>C (FANCA)
XR_933245.1:n.4071+16A>C (FANCA)
NM_000135.3:c.4167+16A>C (FANCA) NP_000126.2:n.4167+16A>C
NM_001286167.2:c.4171+12A>C (FANCA) NP_001273096.1:n.4171+12A>C
XM_005256294.4:c.4171+12A>C (FANCA) XP_005256351.1:n.4171+12A>C
XM_011522945.2:c.4042+12A>C (FANCA) XP_011521247.1:n.4042+12A>C
XM_011522946.3:c.3148+12A>C (FANCA) XP_011521248.1:n.3148+12A>C
XM_011522947.2:c.3148+12A>C (FANCA) XP_011521249.1:n.3148+12A>C
XM_017023044.2:c.4038+16A>C (FANCA) XP_016878533.1:n.4038+16A>C
XM_017023890.1:c.*871T>G (ZNF276) XP_016879379.1:n.*871T>G
XM_024450189.1:c.3148+12A>C (FANCA) XP_024305957.1:n.3148+12A>C
XR_933244.2:n.4134+16A>C (FANCA)
XR_933245.2:n.4071+16A>C (FANCA)
XR_933484.2:n.2882T>G (ZNF276)
NM_000135.4:c.4167+16A>C (FANCA) MANE Select NP_000126.2:n.4167+16A>C
NM_001113525.2:c.*871T>G (ZNF276) MANE Select NP_001106997.1:n.*871T>G
NM_001286167.3:c.4171+12A>C (FANCA) NP_001273096.1:n.4171+12A>C
NM_152287.4:c.*871T>G (ZNF276) NP_689500.2:n.*871T>G
NR_110122.2:n.2871T>G (ZNF276)
NR_110126.2:n.2754T>G (ZNF276)
NR_110129.2:n.2788T>G (ZNF276)
NR_110128.2:n.2694T>G (ZNF276)