Canonical Allele Identifier: CA397483790
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738965C>G , CM000678.2:g.89738965C>G GRCh38
NC_000016.9:g.89805373C>G , CM000678.1:g.89805373C>G GRCh37
NC_000016.8:g.88332874C>G NCBI36
NG_011706.1:g.82693G>C , LRG_495:g.82693G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2750G>C (FANCA) ENSP00000512522.1:n.*2750G>C
ENST00000564475.6:c.4181G>C (FANCA) ENSP00000454977.2:p.Arg1394Pro
ENST00000567510.2:c.2751G>C (FANCA) ENSP00000455969.1:n.2751G>C
ENST00000568369.6:c.4181G>C (FANCA) ENSP00000456829.1:p.Arg1394Pro
ENST00000696274.1:n.4138G>C (FANCA)
ENST00000696275.1:c.*3416G>C (FANCA) ENSP00000512517.1:n.*3416G>C
ENST00000696286.1:c.*90G>C (FANCA) ENSP00000512523.1:n.*90G>C
ENST00000696287.1:c.4052G>C (FANCA) ENSP00000512524.1:p.Arg1351Pro
ENST00000696291.1:c.*3609G>C (FANCA) ENSP00000512530.1:n.*3609G>C
ENST00000389301.8:c.4177G>C (FANCA) MANE Select ENSP00000373952.3:p.Val1393Leu
ENST00000443381.7:c.*719C>G (ZNF276) MANE Select ENSP00000415836.2:n.*719C>G
ENST00000289816.9:c.*719C>G (ZNF276) ENSP00000289816.5:n.*719C>G
ENST00000389301.7:c.4177G>C (FANCA) ENSP00000373952.3:p.Val1393Leu
ENST00000561722.5:c.436-39G>C (FANCA) ENSP00000456608.1:n.436-39G>C
ENST00000562424.1:n.448G>C (FANCA)
ENST00000563983.5:n.2552C>G (ZNF276)
ENST00000564475.5:c.511G>C (FANCA)
ENST00000564870.1:c.378G>C (FANCA)
ENST00000567879.5:c.551G>C (FANCA) ENSP00000457006.1:p.Arg184Pro
ENST00000568369.5:c.4181G>C (FANCA) ENSP00000456829.1:p.Arg1394Pro
NM_000135.2:c.4177G>C , LRG_495t1:c.4177G>C (FANCA) NP_000126.2:p.Val1393Leu
NM_001113525.1:c.*719C>G (ZNF276) NP_001106997.1:n.*719C>G
NM_001286167.1:c.4181G>C (FANCA) NP_001273096.1:p.Arg1394Pro
NM_152287.3:c.*719C>G (ZNF276) NP_689500.2:n.*719C>G
NR_110122.1:n.2736C>G (ZNF276)
NR_110126.1:n.2619C>G (ZNF276)
NR_110128.1:n.2542C>G (ZNF276)
NR_110129.1:n.2631C>G (ZNF276)
XM_005256294.3:c.4181G>C (FANCA) XP_005256351.1:p.Arg1394Pro
XM_011522945.1:c.4052G>C (FANCA) XP_011521247.1:p.Arg1351Pro
XM_011522946.1:c.3158G>C (FANCA) XP_011521248.1:p.Arg1053Pro
XM_011522947.1:c.3158G>C (FANCA) XP_011521249.1:p.Arg1053Pro
XR_933244.1:n.4144G>C (FANCA)
XR_933245.1:n.4081G>C (FANCA)
NM_000135.3:c.4177G>C (FANCA) NP_000126.2:p.Val1393Leu
NM_001286167.2:c.4181G>C (FANCA) NP_001273096.1:p.Arg1394Pro
XM_005256294.4:c.4181G>C (FANCA) XP_005256351.1:p.Arg1394Pro
XM_011522945.2:c.4052G>C (FANCA) XP_011521247.1:p.Arg1351Pro
XM_011522946.3:c.3158G>C (FANCA) XP_011521248.1:p.Arg1053Pro
XM_011522947.2:c.3158G>C (FANCA) XP_011521249.1:p.Arg1053Pro
XM_017023044.2:c.4048G>C (FANCA) XP_016878533.1:p.Val1350Leu
XM_017023890.1:c.*719C>G (ZNF276) XP_016879379.1:n.*719C>G
XM_024450189.1:c.3158G>C (FANCA) XP_024305957.1:p.Arg1053Pro
XR_933244.2:n.4144G>C (FANCA)
XR_933245.2:n.4081G>C (FANCA)
XR_933484.2:n.2730C>G (ZNF276)
NM_000135.4:c.4177G>C (FANCA) MANE Select NP_000126.2:p.Val1393Leu
NM_001113525.2:c.*719C>G (ZNF276) MANE Select NP_001106997.1:n.*719C>G
NM_001286167.3:c.4181G>C (FANCA) NP_001273096.1:p.Arg1394Pro
NM_152287.4:c.*719C>G (ZNF276) NP_689500.2:n.*719C>G
NR_110122.2:n.2719C>G (ZNF276)
NR_110126.2:n.2602C>G (ZNF276)
NR_110129.2:n.2636C>G (ZNF276)
NR_110128.2:n.2542C>G (ZNF276)