Canonical Allele Identifier: CA8250565

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738631A>G , CM000678.2:g.89738631A>G	GRCh38
NC_000016.9:g.89805039A>G , CM000678.1:g.89805039A>G	GRCh37
NC_000016.8:g.88332540A>G	NCBI36
NG_011706.1:g.83027T>C , LRG_495:g.83027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*3084T>C (FANCA)	ENSP00000512522.1:n.*3084T>C
ENST00000564475.6:c.*123T>C (FANCA)	ENSP00000454977.2:n.*123T>C
ENST00000567510.2:c.2912T>C (FANCA)	ENSP00000455969.1:n.2912T>C
ENST00000568369.6:c.*67T>C (FANCA)	ENSP00000456829.1:n.*67T>C
ENST00000696274.1:n.4472T>C (FANCA)
ENST00000696275.1:c.*3750T>C (FANCA)	ENSP00000512517.1:n.*3750T>C
ENST00000696286.1:c.*251T>C (FANCA)	ENSP00000512523.1:n.*251T>C
ENST00000696287.1:c.*123T>C (FANCA)	ENSP00000512524.1:n.*123T>C
ENST00000696291.1:c.*3943T>C (FANCA)	ENSP00000512530.1:n.*3943T>C
ENST00000389301.8:c.4338T>C (FANCA) MANE Select	ENSP00000373952.3:p.Ala1446=
ENST00000443381.7:c.*385A>G (ZNF276) MANE Select	ENSP00000415836.2:n.*385A>G
ENST00000289816.9:c.*385A>G (ZNF276)	ENSP00000289816.5:n.*385A>G
ENST00000389301.7:c.4338T>C (FANCA)	ENSP00000373952.3:p.Ala1446=
ENST00000561722.5:c.558T>C (FANCA)	ENSP00000456608.1:p.Ala186=
ENST00000562424.1:n.609T>C (FANCA)
ENST00000563983.5:n.2218A>G (ZNF276)
ENST00000567879.5:c.712T>C (FANCA)	ENSP00000457006.1:n.712T>C
ENST00000568369.5:c.*67T>C (FANCA)	ENSP00000456829.1:n.*67T>C
NM_000135.2:c.4338T>C , LRG_495t1:c.4338T>C (FANCA)	NP_000126.2:p.Ala1446=
NM_001113525.1:c.*385A>G (ZNF276)	NP_001106997.1:n.*385A>G
NM_001286167.1:c.*67T>C (FANCA)	NP_001273096.1:n.*67T>C
NM_152287.3:c.*385A>G (ZNF276)	NP_689500.2:n.*385A>G
NR_110122.1:n.2402A>G (ZNF276)
NR_110126.1:n.2285A>G (ZNF276)
NR_110128.1:n.2208A>G (ZNF276)
NR_110129.1:n.2297A>G (ZNF276)
XR_933244.1:n.4305T>C (FANCA)
XR_933245.1:n.4242T>C (FANCA)
NM_000135.3:c.4338T>C (FANCA)	NP_000126.2:p.Ala1446=
NM_001286167.2:c.*67T>C (FANCA)	NP_001273096.1:n.*67T>C
XM_005256294.4:c.*123T>C (FANCA)	XP_005256351.1:n.*123T>C
XM_011522945.2:c.*123T>C (FANCA)	XP_011521247.1:n.*123T>C
XM_011522946.3:c.*123T>C (FANCA)	XP_011521248.1:n.*123T>C
XM_011522947.2:c.*123T>C (FANCA)	XP_011521249.1:n.*123T>C
XM_017023044.2:c.4209T>C (FANCA)	XP_016878533.1:p.Ala1403=
XM_017023890.1:c.*385A>G (ZNF276)	XP_016879379.1:n.*385A>G
XM_024450189.1:c.*123T>C (FANCA)	XP_024305957.1:n.*123T>C
XR_933244.2:n.4305T>C (FANCA)
XR_933245.2:n.4242T>C (FANCA)
XR_933484.2:n.2396A>G (ZNF276)
NM_000135.4:c.4338T>C (FANCA) MANE Select	NP_000126.2:p.Ala1446=
NM_001113525.2:c.*385A>G (ZNF276) MANE Select	NP_001106997.1:n.*385A>G
NM_001286167.3:c.*67T>C (FANCA)	NP_001273096.1:n.*67T>C
NM_152287.4:c.*385A>G (ZNF276)	NP_689500.2:n.*385A>G
NR_110122.2:n.2385A>G (ZNF276)
NR_110126.2:n.2268A>G (ZNF276)
NR_110129.2:n.2302A>G (ZNF276)
NR_110128.2:n.2208A>G (ZNF276)