Canonical Allele Identifier: CA397484340
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739178G>T , CM000678.2:g.89739178G>T GRCh38
NC_000016.9:g.89805586G>T , CM000678.1:g.89805586G>T GRCh37
NC_000016.8:g.88333087G>T NCBI36
NG_011706.1:g.82480C>A , LRG_495:g.82480C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2695C>A (FANCA) ENSP00000512522.1:n.*2695C>A
ENST00000564475.6:c.4122C>A (FANCA) ENSP00000454977.2:p.Ser1374Arg
ENST00000567510.2:c.2692C>A (FANCA) ENSP00000455969.1:n.2692C>A
ENST00000568369.6:c.4122C>A (FANCA) ENSP00000456829.1:p.Ser1374Arg
ENST00000696274.1:n.4083C>A (FANCA)
ENST00000696275.1:c.*3357C>A (FANCA) ENSP00000512517.1:n.*3357C>A
ENST00000696286.1:c.*35C>A (FANCA) ENSP00000512523.1:n.*35C>A
ENST00000696287.1:c.3993C>A (FANCA) ENSP00000512524.1:p.Ser1331Arg
ENST00000696291.1:c.*3554C>A (FANCA) ENSP00000512530.1:n.*3554C>A
ENST00000389301.8:c.4122C>A (FANCA) MANE Select ENSP00000373952.3:p.Ser1374Arg
ENST00000443381.7:c.*932G>T (ZNF276) MANE Select ENSP00000415836.2:n.*932G>T
ENST00000289816.9:c.*932G>T (ZNF276) ENSP00000289816.5:n.*932G>T
ENST00000389301.7:c.4122C>A (FANCA) ENSP00000373952.3:p.Ser1374Arg
ENST00000561722.5:c.273C>A (FANCA) ENSP00000456608.1:p.Ser91Arg
ENST00000562424.1:n.393C>A (FANCA)
ENST00000563983.5:n.2765G>T (ZNF276)
ENST00000564475.5:c.452C>A (FANCA)
ENST00000564870.1:c.323C>A (FANCA)
ENST00000567879.5:c.501C>A (FANCA) ENSP00000457006.1:p.Ser167Arg
ENST00000568369.5:c.4122C>A (FANCA) ENSP00000456829.1:p.Ser1374Arg
NM_000135.2:c.4122C>A , LRG_495t1:c.4122C>A (FANCA) NP_000126.2:p.Ser1374Arg
NM_001113525.1:c.*932G>T (ZNF276) NP_001106997.1:n.*932G>T
NM_001286167.1:c.4122C>A (FANCA) NP_001273096.1:p.Ser1374Arg
NM_152287.3:c.*932G>T (ZNF276) NP_689500.2:n.*932G>T
NR_110122.1:n.2949G>T (ZNF276)
NR_110126.1:n.2832G>T (ZNF276)
NR_110128.1:n.2755G>T (ZNF276)
NR_110129.1:n.2844G>T (ZNF276)
XM_005256294.3:c.4122C>A (FANCA) XP_005256351.1:p.Ser1374Arg
XM_011522945.1:c.3993C>A (FANCA) XP_011521247.1:p.Ser1331Arg
XM_011522946.1:c.3099C>A (FANCA) XP_011521248.1:p.Ser1033Arg
XM_011522947.1:c.3099C>A (FANCA) XP_011521249.1:p.Ser1033Arg
XR_933244.1:n.4089C>A (FANCA)
XR_933245.1:n.4026C>A (FANCA)
NM_000135.3:c.4122C>A (FANCA) NP_000126.2:p.Ser1374Arg
NM_001286167.2:c.4122C>A (FANCA) NP_001273096.1:p.Ser1374Arg
XM_005256294.4:c.4122C>A (FANCA) XP_005256351.1:p.Ser1374Arg
XM_011522945.2:c.3993C>A (FANCA) XP_011521247.1:p.Ser1331Arg
XM_011522946.3:c.3099C>A (FANCA) XP_011521248.1:p.Ser1033Arg
XM_011522947.2:c.3099C>A (FANCA) XP_011521249.1:p.Ser1033Arg
XM_017023044.2:c.3993C>A (FANCA) XP_016878533.1:p.Ser1331Arg
XM_017023890.1:c.*932G>T (ZNF276) XP_016879379.1:n.*932G>T
XM_024450189.1:c.3099C>A (FANCA) XP_024305957.1:p.Ser1033Arg
XR_933244.2:n.4089C>A (FANCA)
XR_933245.2:n.4026C>A (FANCA)
XR_933484.2:n.2943G>T (ZNF276)
NM_000135.4:c.4122C>A (FANCA) MANE Select NP_000126.2:p.Ser1374Arg
NM_001113525.2:c.*932G>T (ZNF276) MANE Select NP_001106997.1:n.*932G>T
NM_001286167.3:c.4122C>A (FANCA) NP_001273096.1:p.Ser1374Arg
NM_152287.4:c.*932G>T (ZNF276) NP_689500.2:n.*932G>T
NR_110122.2:n.2932G>T (ZNF276)
NR_110126.2:n.2815G>T (ZNF276)
NR_110129.2:n.2849G>T (ZNF276)
NR_110128.2:n.2755G>T (ZNF276)