Canonical Allele Identifier: CA497379198
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738673C>A , CM000678.2:g.89738673C>A GRCh38
NC_000016.9:g.89805081C>A , CM000678.1:g.89805081C>A GRCh37
NC_000016.8:g.88332582C>A NCBI36
NG_011706.1:g.82985G>T , LRG_495:g.82985G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*3042G>T (FANCA) ENSP00000512522.1:n.*3042G>T
ENST00000564475.6:c.*81G>T (FANCA) ENSP00000454977.2:n.*81G>T
ENST00000567510.2:c.2870G>T (FANCA) ENSP00000455969.1:n.2870G>T
ENST00000568369.6:c.*25G>T (FANCA) ENSP00000456829.1:n.*25G>T
ENST00000696274.1:n.4430G>T (FANCA)
ENST00000696275.1:c.*3708G>T (FANCA) ENSP00000512517.1:n.*3708G>T
ENST00000696286.1:c.*209G>T (FANCA) ENSP00000512523.1:n.*209G>T
ENST00000696287.1:c.*81G>T (FANCA) ENSP00000512524.1:n.*81G>T
ENST00000696291.1:c.*3901G>T (FANCA) ENSP00000512530.1:n.*3901G>T
ENST00000389301.8:c.4296G>T (FANCA) MANE Select ENSP00000373952.3:p.Val1432=
ENST00000443381.7:c.*427C>A (ZNF276) MANE Select ENSP00000415836.2:n.*427C>A
ENST00000289816.9:c.*427C>A (ZNF276) ENSP00000289816.5:n.*427C>A
ENST00000389301.7:c.4296G>T (FANCA) ENSP00000373952.3:p.Val1432=
ENST00000561722.5:c.516G>T (FANCA) ENSP00000456608.1:p.Val172=
ENST00000562424.1:n.567G>T (FANCA)
ENST00000563983.5:n.2260C>A (ZNF276)
ENST00000567879.5:c.670G>T (FANCA) ENSP00000457006.1:n.670G>T
ENST00000568369.5:c.*25G>T (FANCA) ENSP00000456829.1:n.*25G>T
NM_000135.2:c.4296G>T , LRG_495t1:c.4296G>T (FANCA) NP_000126.2:p.Val1432=
NM_001113525.1:c.*427C>A (ZNF276) NP_001106997.1:n.*427C>A
NM_001286167.1:c.*25G>T (FANCA) NP_001273096.1:n.*25G>T
NM_152287.3:c.*427C>A (ZNF276) NP_689500.2:n.*427C>A
NR_110122.1:n.2444C>A (ZNF276)
NR_110126.1:n.2327C>A (ZNF276)
NR_110128.1:n.2250C>A (ZNF276)
NR_110129.1:n.2339C>A (ZNF276)
XR_933244.1:n.4263G>T (FANCA)
XR_933245.1:n.4200G>T (FANCA)
NM_000135.3:c.4296G>T (FANCA) NP_000126.2:p.Val1432=
NM_001286167.2:c.*25G>T (FANCA) NP_001273096.1:n.*25G>T
XM_005256294.4:c.*81G>T (FANCA) XP_005256351.1:n.*81G>T
XM_011522945.2:c.*81G>T (FANCA) XP_011521247.1:n.*81G>T
XM_011522946.3:c.*81G>T (FANCA) XP_011521248.1:n.*81G>T
XM_011522947.2:c.*81G>T (FANCA) XP_011521249.1:n.*81G>T
XM_017023044.2:c.4167G>T (FANCA) XP_016878533.1:p.Val1389=
XM_017023890.1:c.*427C>A (ZNF276) XP_016879379.1:n.*427C>A
XM_024450189.1:c.*81G>T (FANCA) XP_024305957.1:n.*81G>T
XR_933244.2:n.4263G>T (FANCA)
XR_933245.2:n.4200G>T (FANCA)
XR_933484.2:n.2438C>A (ZNF276)
NM_000135.4:c.4296G>T (FANCA) MANE Select NP_000126.2:p.Val1432=
NM_001113525.2:c.*427C>A (ZNF276) MANE Select NP_001106997.1:n.*427C>A
NM_001286167.3:c.*25G>T (FANCA) NP_001273096.1:n.*25G>T
NM_152287.4:c.*427C>A (ZNF276) NP_689500.2:n.*427C>A
NR_110122.2:n.2427C>A (ZNF276)
NR_110126.2:n.2310C>A (ZNF276)
NR_110129.2:n.2344C>A (ZNF276)
NR_110128.2:n.2250C>A (ZNF276)