Canonical Allele Identifier: CA397484153
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739078G>T , CM000678.2:g.89739078G>T GRCh38
NC_000016.9:g.89805486G>T , CM000678.1:g.89805486G>T GRCh37
NC_000016.8:g.88332987G>T NCBI36
NG_011706.1:g.82580C>A , LRG_495:g.82580C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2740+55C>A (FANCA) ENSP00000512522.1:n.*2740+55C>A
ENST00000564475.6:c.4171+51C>A (FANCA) ENSP00000454977.2:n.4171+51C>A
ENST00000567510.2:c.2741+51C>A (FANCA) ENSP00000455969.1:n.2741+51C>A
ENST00000568369.6:c.4171+51C>A (FANCA) ENSP00000456829.1:n.4171+51C>A
ENST00000696274.1:n.4128+55C>A (FANCA)
ENST00000696275.1:c.*3406+51C>A (FANCA) ENSP00000512517.1:n.*3406+51C>A
ENST00000696286.1:c.*80+55C>A (FANCA) ENSP00000512523.1:n.*80+55C>A
ENST00000696287.1:c.4042+51C>A (FANCA) ENSP00000512524.1:n.4042+51C>A
ENST00000696291.1:c.*3599+55C>A (FANCA) ENSP00000512530.1:n.*3599+55C>A
ENST00000389301.8:c.4167+55C>A (FANCA) MANE Select ENSP00000373952.3:n.4167+55C>A
ENST00000443381.7:c.*832G>T (ZNF276) MANE Select ENSP00000415836.2:n.*832G>T
ENST00000289816.9:c.*832G>T (ZNF276) ENSP00000289816.5:n.*832G>T
ENST00000389301.7:c.4167+55C>A (FANCA) ENSP00000373952.3:n.4167+55C>A
ENST00000561722.5:c.373C>A (FANCA) ENSP00000456608.1:p.Leu125Ile
ENST00000562424.1:n.438+55C>A (FANCA)
ENST00000563983.5:n.2665G>T (ZNF276)
ENST00000564475.5:c.501+51C>A (FANCA)
ENST00000564870.1:c.368+55C>A (FANCA)
ENST00000567879.5:c.541+60C>A (FANCA) ENSP00000457006.1:n.541+60C>A
ENST00000568369.5:c.4171+51C>A (FANCA) ENSP00000456829.1:n.4171+51C>A
NM_000135.2:c.4167+55C>A , LRG_495t1:c.4167+55C>A (FANCA) NP_000126.2:n.4167+55C>A
NM_001113525.1:c.*832G>T (ZNF276) NP_001106997.1:n.*832G>T
NM_001286167.1:c.4171+51C>A (FANCA) NP_001273096.1:n.4171+51C>A
NM_152287.3:c.*832G>T (ZNF276) NP_689500.2:n.*832G>T
NR_110122.1:n.2849G>T (ZNF276)
NR_110126.1:n.2732G>T (ZNF276)
NR_110128.1:n.2655G>T (ZNF276)
NR_110129.1:n.2744G>T (ZNF276)
XM_005256294.3:c.4171+51C>A (FANCA) XP_005256351.1:n.4171+51C>A
XM_011522945.1:c.4042+51C>A (FANCA) XP_011521247.1:n.4042+51C>A
XM_011522946.1:c.3148+51C>A (FANCA) XP_011521248.1:n.3148+51C>A
XM_011522947.1:c.3148+51C>A (FANCA) XP_011521249.1:n.3148+51C>A
XR_933244.1:n.4134+55C>A (FANCA)
XR_933245.1:n.4071+55C>A (FANCA)
NM_000135.3:c.4167+55C>A (FANCA) NP_000126.2:n.4167+55C>A
NM_001286167.2:c.4171+51C>A (FANCA) NP_001273096.1:n.4171+51C>A
XM_005256294.4:c.4171+51C>A (FANCA) XP_005256351.1:n.4171+51C>A
XM_011522945.2:c.4042+51C>A (FANCA) XP_011521247.1:n.4042+51C>A
XM_011522946.3:c.3148+51C>A (FANCA) XP_011521248.1:n.3148+51C>A
XM_011522947.2:c.3148+51C>A (FANCA) XP_011521249.1:n.3148+51C>A
XM_017023044.2:c.4038+55C>A (FANCA) XP_016878533.1:n.4038+55C>A
XM_017023890.1:c.*832G>T (ZNF276) XP_016879379.1:n.*832G>T
XM_024450189.1:c.3148+51C>A (FANCA) XP_024305957.1:n.3148+51C>A
XR_933244.2:n.4134+55C>A (FANCA)
XR_933245.2:n.4071+55C>A (FANCA)
XR_933484.2:n.2843G>T (ZNF276)
NM_000135.4:c.4167+55C>A (FANCA) MANE Select NP_000126.2:n.4167+55C>A
NM_001113525.2:c.*832G>T (ZNF276) MANE Select NP_001106997.1:n.*832G>T
NM_001286167.3:c.4171+51C>A (FANCA) NP_001273096.1:n.4171+51C>A
NM_152287.4:c.*832G>T (ZNF276) NP_689500.2:n.*832G>T
NR_110122.2:n.2832G>T (ZNF276)
NR_110126.2:n.2715G>T (ZNF276)
NR_110129.2:n.2749G>T (ZNF276)
NR_110128.2:n.2655G>T (ZNF276)