Canonical Allele Identifier: CA397483812
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738968G>C , CM000678.2:g.89738968G>C GRCh38
NC_000016.9:g.89805376G>C , CM000678.1:g.89805376G>C GRCh37
NC_000016.8:g.88332877G>C NCBI36
NG_011706.1:g.82690C>G , LRG_495:g.82690C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2747C>G (FANCA) ENSP00000512522.1:n.*2747C>G
ENST00000564475.6:c.4178C>G (FANCA) ENSP00000454977.2:p.Pro1393Arg
ENST00000567510.2:c.2748C>G (FANCA) ENSP00000455969.1:n.2748C>G
ENST00000568369.6:c.4178C>G (FANCA) ENSP00000456829.1:p.Pro1393Arg
ENST00000696274.1:n.4135C>G (FANCA)
ENST00000696275.1:c.*3413C>G (FANCA) ENSP00000512517.1:n.*3413C>G
ENST00000696286.1:c.*87C>G (FANCA) ENSP00000512523.1:n.*87C>G
ENST00000696287.1:c.4049C>G (FANCA) ENSP00000512524.1:p.Pro1350Arg
ENST00000696291.1:c.*3606C>G (FANCA) ENSP00000512530.1:n.*3606C>G
ENST00000389301.8:c.4174C>G (FANCA) MANE Select ENSP00000373952.3:p.Pro1392Ala
ENST00000443381.7:c.*722G>C (ZNF276) MANE Select ENSP00000415836.2:n.*722G>C
ENST00000289816.9:c.*722G>C (ZNF276) ENSP00000289816.5:n.*722G>C
ENST00000389301.7:c.4174C>G (FANCA) ENSP00000373952.3:p.Pro1392Ala
ENST00000561722.5:c.436-42C>G (FANCA) ENSP00000456608.1:n.436-42C>G
ENST00000562424.1:n.445C>G (FANCA)
ENST00000563983.5:n.2555G>C (ZNF276)
ENST00000564475.5:c.508C>G (FANCA)
ENST00000564870.1:c.375C>G (FANCA)
ENST00000567879.5:c.548C>G (FANCA) ENSP00000457006.1:p.Pro183Arg
ENST00000568369.5:c.4178C>G (FANCA) ENSP00000456829.1:p.Pro1393Arg
NM_000135.2:c.4174C>G , LRG_495t1:c.4174C>G (FANCA) NP_000126.2:p.Pro1392Ala
NM_001113525.1:c.*722G>C (ZNF276) NP_001106997.1:n.*722G>C
NM_001286167.1:c.4178C>G (FANCA) NP_001273096.1:p.Pro1393Arg
NM_152287.3:c.*722G>C (ZNF276) NP_689500.2:n.*722G>C
NR_110122.1:n.2739G>C (ZNF276)
NR_110126.1:n.2622G>C (ZNF276)
NR_110128.1:n.2545G>C (ZNF276)
NR_110129.1:n.2634G>C (ZNF276)
XM_005256294.3:c.4178C>G (FANCA) XP_005256351.1:p.Pro1393Arg
XM_011522945.1:c.4049C>G (FANCA) XP_011521247.1:p.Pro1350Arg
XM_011522946.1:c.3155C>G (FANCA) XP_011521248.1:p.Pro1052Arg
XM_011522947.1:c.3155C>G (FANCA) XP_011521249.1:p.Pro1052Arg
XR_933244.1:n.4141C>G (FANCA)
XR_933245.1:n.4078C>G (FANCA)
NM_000135.3:c.4174C>G (FANCA) NP_000126.2:p.Pro1392Ala
NM_001286167.2:c.4178C>G (FANCA) NP_001273096.1:p.Pro1393Arg
XM_005256294.4:c.4178C>G (FANCA) XP_005256351.1:p.Pro1393Arg
XM_011522945.2:c.4049C>G (FANCA) XP_011521247.1:p.Pro1350Arg
XM_011522946.3:c.3155C>G (FANCA) XP_011521248.1:p.Pro1052Arg
XM_011522947.2:c.3155C>G (FANCA) XP_011521249.1:p.Pro1052Arg
XM_017023044.2:c.4045C>G (FANCA) XP_016878533.1:p.Pro1349Ala
XM_017023890.1:c.*722G>C (ZNF276) XP_016879379.1:n.*722G>C
XM_024450189.1:c.3155C>G (FANCA) XP_024305957.1:p.Pro1052Arg
XR_933244.2:n.4141C>G (FANCA)
XR_933245.2:n.4078C>G (FANCA)
XR_933484.2:n.2733G>C (ZNF276)
NM_000135.4:c.4174C>G (FANCA) MANE Select NP_000126.2:p.Pro1392Ala
NM_001113525.2:c.*722G>C (ZNF276) MANE Select NP_001106997.1:n.*722G>C
NM_001286167.3:c.4178C>G (FANCA) NP_001273096.1:p.Pro1393Arg
NM_152287.4:c.*722G>C (ZNF276) NP_689500.2:n.*722G>C
NR_110122.2:n.2722G>C (ZNF276)
NR_110126.2:n.2605G>C (ZNF276)
NR_110129.2:n.2639G>C (ZNF276)
NR_110128.2:n.2545G>C (ZNF276)