Canonical Allele Identifier: CA397484803
Community Standard Title: NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739512G>A , CM000678.2:g.89739512G>A GRCh38
NC_000016.9:g.89805920G>A , CM000678.1:g.89805920G>A GRCh37
NC_000016.8:g.88333421G>A NCBI36
NG_011706.1:g.82146C>T , LRG_495:g.82146C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.3976C>T (FANCA) MANE Select NP_000126.2:p.Gln1326Ter
NM_001113525.2:c.*1266G>A (ZNF276) MANE Select NP_001106997.1:n.*1266G>A
ENST00000389301.8:c.3976C>T (FANCA) MANE Select ENSP00000373952.3:p.Gln1326Ter
ENST00000443381.7:c.*1266G>A (ZNF276) MANE Select ENSP00000415836.2:n.*1266G>A
NM_000135.2:c.3976C>T , LRG_495t1:c.3976C>T (FANCA) NP_000126.2:p.Gln1326Ter
NM_000135.3:c.3976C>T (FANCA) NP_000126.2:p.Gln1326Ter
NM_001113525.1:c.*1266G>A (ZNF276) NP_001106997.1:n.*1266G>A
NM_001286167.1:c.3976C>T (FANCA) NP_001273096.1:p.Gln1326Ter
NM_001286167.2:c.3976C>T (FANCA) NP_001273096.1:p.Gln1326Ter
NM_001286167.3:c.3976C>T (FANCA) NP_001273096.1:p.Gln1326Ter
NM_152287.3:c.*1266G>A (ZNF276) NP_689500.2:n.*1266G>A
NM_152287.4:c.*1266G>A (ZNF276) NP_689500.2:n.*1266G>A
NR_110122.1:n.3283G>A (ZNF276)
NR_110122.2:n.3266G>A (ZNF276)
NR_110126.1:n.3166G>A (ZNF276)
NR_110126.2:n.3149G>A (ZNF276)
NR_110128.1:n.3089G>A (ZNF276)
NR_110128.2:n.3089G>A (ZNF276)
NR_110129.1:n.3178G>A (ZNF276)
NR_110129.2:n.3183G>A (ZNF276)
ENST00000289816.9:c.*1266G>A (ZNF276) ENSP00000289816.5:n.*1266G>A
ENST00000389301.7:c.3976C>T (FANCA) ENSP00000373952.3:p.Gln1326Ter
ENST00000561667.2:c.*2549C>T (FANCA) ENSP00000512522.1:n.*2549C>T
ENST00000561722.5:c.127C>T (FANCA) ENSP00000456608.1:p.Gln43Ter
ENST00000562424.1:n.247C>T (FANCA)
ENST00000563983.5:n.3099G>A (ZNF276)
ENST00000564475.5:c.306C>T (FANCA)
ENST00000564475.6:c.3976C>T (FANCA) ENSP00000454977.2:p.Gln1326Ter
ENST00000564870.1:c.177C>T (FANCA)
ENST00000564969.5:n.701C>T (FANCA)
ENST00000567510.2:c.2546C>T (FANCA) ENSP00000455969.1:n.2546C>T
ENST00000567879.5:c.413-246C>T (FANCA) ENSP00000457006.1:n.413-246C>T
ENST00000568369.5:c.3976C>T (FANCA) ENSP00000456829.1:p.Gln1326Ter
ENST00000568369.6:c.3976C>T (FANCA) ENSP00000456829.1:p.Gln1326Ter
ENST00000568626.1:c.685C>T (FANCA)
ENST00000696274.1:n.3937C>T (FANCA)
ENST00000696275.1:c.*3211C>T (FANCA) ENSP00000512517.1:n.*3211C>T
ENST00000696286.1:c.3935-223C>T (FANCA) ENSP00000512523.1:n.3935-223C>T
ENST00000696287.1:c.3847C>T (FANCA) ENSP00000512524.1:p.Gln1283Ter
ENST00000696291.1:c.*3408C>T (FANCA) ENSP00000512530.1:n.*3408C>T
XM_005256294.3:c.3976C>T (FANCA) XP_005256351.1:p.Gln1326Ter
XM_005256294.4:c.3976C>T (FANCA) XP_005256351.1:p.Gln1326Ter
XM_011522945.1:c.3847C>T (FANCA) XP_011521247.1:p.Gln1283Ter
XM_011522945.2:c.3847C>T (FANCA) XP_011521247.1:p.Gln1283Ter
XM_011522946.1:c.2953C>T (FANCA) XP_011521248.1:p.Gln985Ter
XM_011522946.3:c.2953C>T (FANCA) XP_011521248.1:p.Gln985Ter
XM_011522947.1:c.2953C>T (FANCA) XP_011521249.1:p.Gln985Ter
XM_011522947.2:c.2953C>T (FANCA) XP_011521249.1:p.Gln985Ter
XM_017023044.2:c.3847C>T (FANCA) XP_016878533.1:p.Gln1283Ter
XM_017023890.1:c.*1266G>A (ZNF276) XP_016879379.1:n.*1266G>A
XM_024450189.1:c.2953C>T (FANCA) XP_024305957.1:p.Gln985Ter
XR_001751866.1:n.3846C>T (FANCA)
XR_933244.1:n.3978-223C>T (FANCA)
XR_933244.2:n.3978-223C>T (FANCA)
XR_933245.1:n.3880C>T (FANCA)
XR_933245.2:n.3880C>T (FANCA)
XR_933484.2:n.3277G>A (ZNF276)