Canonical Allele Identifier: CA397483175
Community Standard Title: NM_000135.4(FANCA):c.4260+2T>A
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738880A>T , CM000678.2:g.89738880A>T GRCh38
NC_000016.9:g.89805288A>T , CM000678.1:g.89805288A>T GRCh37
NC_000016.8:g.88332789A>T NCBI36
NG_011706.1:g.82778T>A , LRG_495:g.82778T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.4260+2T>A (FANCA) MANE Select NP_000126.2:n.4260+2T>A
NM_001113525.2:c.*634A>T (ZNF276) MANE Select NP_001106997.1:n.*634A>T
ENST00000389301.8:c.4260+2T>A (FANCA) MANE Select ENSP00000373952.3:n.4260+2T>A
ENST00000443381.7:c.*634A>T (ZNF276) MANE Select ENSP00000415836.2:n.*634A>T
NM_000135.2:c.4260+2T>A , LRG_495t1:c.4260+2T>A (FANCA) NP_000126.2:n.4260+2T>A
NM_000135.3:c.4260+2T>A (FANCA) NP_000126.2:n.4260+2T>A
NM_001113525.1:c.*634A>T (ZNF276) NP_001106997.1:n.*634A>T
NM_001286167.1:c.4264+2T>A (FANCA) NP_001273096.1:n.4264+2T>A
NM_001286167.2:c.4264+2T>A (FANCA) NP_001273096.1:n.4264+2T>A
NM_001286167.3:c.4264+2T>A (FANCA) NP_001273096.1:n.4264+2T>A
NM_152287.3:c.*634A>T (ZNF276) NP_689500.2:n.*634A>T
NM_152287.4:c.*634A>T (ZNF276) NP_689500.2:n.*634A>T
NR_110122.1:n.2651A>T (ZNF276)
NR_110122.2:n.2634A>T (ZNF276)
NR_110126.1:n.2534A>T (ZNF276)
NR_110126.2:n.2517A>T (ZNF276)
NR_110128.1:n.2457A>T (ZNF276)
NR_110128.2:n.2457A>T (ZNF276)
NR_110129.1:n.2546A>T (ZNF276)
NR_110129.2:n.2551A>T (ZNF276)
ENST00000289816.9:c.*634A>T (ZNF276) ENSP00000289816.5:n.*634A>T
ENST00000389301.7:c.4260+2T>A (FANCA) ENSP00000373952.3:n.4260+2T>A
ENST00000561667.2:c.*2835T>A (FANCA) ENSP00000512522.1:n.*2835T>A
ENST00000561722.5:c.480+2T>A (FANCA) ENSP00000456608.1:n.480+2T>A
ENST00000562424.1:n.531+2T>A (FANCA)
ENST00000563983.5:n.2467A>T (ZNF276)
ENST00000564475.5:c.596T>A (FANCA)
ENST00000564475.6:c.4266T>A (FANCA) ENSP00000454977.2:p.Gly1422=
ENST00000567510.2:c.2834+2T>A (FANCA) ENSP00000455969.1:n.2834+2T>A
ENST00000567879.5:c.634+2T>A (FANCA) ENSP00000457006.1:n.634+2T>A
ENST00000568369.5:c.4264+2T>A (FANCA) ENSP00000456829.1:n.4264+2T>A
ENST00000568369.6:c.4264+2T>A (FANCA) ENSP00000456829.1:n.4264+2T>A
ENST00000696274.1:n.4223T>A (FANCA)
ENST00000696275.1:c.*3501T>A (FANCA) ENSP00000512517.1:n.*3501T>A
ENST00000696286.1:c.*173+2T>A (FANCA) ENSP00000512523.1:n.*173+2T>A
ENST00000696287.1:c.4137T>A (FANCA) ENSP00000512524.1:p.Gly1379=
ENST00000696291.1:c.*3694T>A (FANCA) ENSP00000512530.1:n.*3694T>A
XM_005256294.3:c.4266T>A (FANCA) XP_005256351.1:p.Gly1422=
XM_005256294.4:c.4266T>A (FANCA) XP_005256351.1:p.Gly1422=
XM_011522945.1:c.4137T>A (FANCA) XP_011521247.1:p.Gly1379=
XM_011522945.2:c.4137T>A (FANCA) XP_011521247.1:p.Gly1379=
XM_011522946.1:c.3243T>A (FANCA) XP_011521248.1:p.Gly1081=
XM_011522946.3:c.3243T>A (FANCA) XP_011521248.1:p.Gly1081=
XM_011522947.1:c.3243T>A (FANCA) XP_011521249.1:p.Gly1081=
XM_011522947.2:c.3243T>A (FANCA) XP_011521249.1:p.Gly1081=
XM_017023044.2:c.4131+2T>A (FANCA) XP_016878533.1:n.4131+2T>A
XM_017023890.1:c.*634A>T (ZNF276) XP_016879379.1:n.*634A>T
XM_024450189.1:c.3243T>A (FANCA) XP_024305957.1:p.Gly1081=
XR_933244.1:n.4227+2T>A (FANCA)
XR_933244.2:n.4227+2T>A (FANCA)
XR_933245.1:n.4164+2T>A (FANCA)
XR_933245.2:n.4164+2T>A (FANCA)
XR_933484.2:n.2645A>T (ZNF276)