Canonical Allele Identifier: CA397484220
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

dbSNP Id: rs1181195183

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739120C>A , CM000678.2:g.89739120C>A GRCh38
NC_000016.9:g.89805528C>A , CM000678.1:g.89805528C>A GRCh37
NC_000016.8:g.88333029C>A NCBI36
NG_011706.1:g.82538G>T , LRG_495:g.82538G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2740+13G>T (FANCA) ENSP00000512522.1:n.*2740+13G>T
ENST00000564475.6:c.4171+9G>T (FANCA) ENSP00000454977.2:n.4171+9G>T
ENST00000567510.2:c.2741+9G>T (FANCA) ENSP00000455969.1:n.2741+9G>T
ENST00000568369.6:c.4171+9G>T (FANCA) ENSP00000456829.1:n.4171+9G>T
ENST00000696274.1:n.4128+13G>T (FANCA)
ENST00000696275.1:c.*3406+9G>T (FANCA) ENSP00000512517.1:n.*3406+9G>T
ENST00000696286.1:c.*80+13G>T (FANCA) ENSP00000512523.1:n.*80+13G>T
ENST00000696287.1:c.4042+9G>T (FANCA) ENSP00000512524.1:n.4042+9G>T
ENST00000696291.1:c.*3599+13G>T (FANCA) ENSP00000512530.1:n.*3599+13G>T
ENST00000389301.8:c.4167+13G>T (FANCA) MANE Select ENSP00000373952.3:n.4167+13G>T
ENST00000443381.7:c.*874C>A (ZNF276) MANE Select ENSP00000415836.2:n.*874C>A
ENST00000289816.9:c.*874C>A (ZNF276) ENSP00000289816.5:n.*874C>A
ENST00000389301.7:c.4167+13G>T (FANCA) ENSP00000373952.3:n.4167+13G>T
ENST00000561722.5:c.331G>T (FANCA) ENSP00000456608.1:p.Ala111Ser
ENST00000562424.1:n.438+13G>T (FANCA)
ENST00000563983.5:n.2707C>A (ZNF276)
ENST00000564475.5:c.501+9G>T (FANCA)
ENST00000564870.1:c.368+13G>T (FANCA)
ENST00000567879.5:c.541+18G>T (FANCA) ENSP00000457006.1:n.541+18G>T
ENST00000568369.5:c.4171+9G>T (FANCA) ENSP00000456829.1:n.4171+9G>T
NM_000135.2:c.4167+13G>T , LRG_495t1:c.4167+13G>T (FANCA) NP_000126.2:n.4167+13G>T
NM_001113525.1:c.*874C>A (ZNF276) NP_001106997.1:n.*874C>A
NM_001286167.1:c.4171+9G>T (FANCA) NP_001273096.1:n.4171+9G>T
NM_152287.3:c.*874C>A (ZNF276) NP_689500.2:n.*874C>A
NR_110122.1:n.2891C>A (ZNF276)
NR_110126.1:n.2774C>A (ZNF276)
NR_110128.1:n.2697C>A (ZNF276)
NR_110129.1:n.2786C>A (ZNF276)
XM_005256294.3:c.4171+9G>T (FANCA) XP_005256351.1:n.4171+9G>T
XM_011522945.1:c.4042+9G>T (FANCA) XP_011521247.1:n.4042+9G>T
XM_011522946.1:c.3148+9G>T (FANCA) XP_011521248.1:n.3148+9G>T
XM_011522947.1:c.3148+9G>T (FANCA) XP_011521249.1:n.3148+9G>T
XR_933244.1:n.4134+13G>T (FANCA)
XR_933245.1:n.4071+13G>T (FANCA)
NM_000135.3:c.4167+13G>T (FANCA) NP_000126.2:n.4167+13G>T
NM_001286167.2:c.4171+9G>T (FANCA) NP_001273096.1:n.4171+9G>T
XM_005256294.4:c.4171+9G>T (FANCA) XP_005256351.1:n.4171+9G>T
XM_011522945.2:c.4042+9G>T (FANCA) XP_011521247.1:n.4042+9G>T
XM_011522946.3:c.3148+9G>T (FANCA) XP_011521248.1:n.3148+9G>T
XM_011522947.2:c.3148+9G>T (FANCA) XP_011521249.1:n.3148+9G>T
XM_017023044.2:c.4038+13G>T (FANCA) XP_016878533.1:n.4038+13G>T
XM_017023890.1:c.*874C>A (ZNF276) XP_016879379.1:n.*874C>A
XM_024450189.1:c.3148+9G>T (FANCA) XP_024305957.1:n.3148+9G>T
XR_933244.2:n.4134+13G>T (FANCA)
XR_933245.2:n.4071+13G>T (FANCA)
XR_933484.2:n.2885C>A (ZNF276)
NM_000135.4:c.4167+13G>T (FANCA) MANE Select NP_000126.2:n.4167+13G>T
NM_001113525.2:c.*874C>A (ZNF276) MANE Select NP_001106997.1:n.*874C>A
NM_001286167.3:c.4171+9G>T (FANCA) NP_001273096.1:n.4171+9G>T
NM_152287.4:c.*874C>A (ZNF276) NP_689500.2:n.*874C>A
NR_110122.2:n.2874C>A (ZNF276)
NR_110126.2:n.2757C>A (ZNF276)
NR_110129.2:n.2791C>A (ZNF276)
NR_110128.2:n.2697C>A (ZNF276)