Canonical Allele Identifier: CA8250570

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738637A>C , CM000678.2:g.89738637A>C	GRCh38
NC_000016.9:g.89805045A>C , CM000678.1:g.89805045A>C	GRCh37
NC_000016.8:g.88332546A>C	NCBI36
NG_011706.1:g.83021T>G , LRG_495:g.83021T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*3078T>G (FANCA)	ENSP00000512522.1:n.*3078T>G
ENST00000564475.6:c.*117T>G (FANCA)	ENSP00000454977.2:n.*117T>G
ENST00000567510.2:c.2906T>G (FANCA)	ENSP00000455969.1:n.2906T>G
ENST00000568369.6:c.*61T>G (FANCA)	ENSP00000456829.1:n.*61T>G
ENST00000696274.1:n.4466T>G (FANCA)
ENST00000696275.1:c.*3744T>G (FANCA)	ENSP00000512517.1:n.*3744T>G
ENST00000696286.1:c.*245T>G (FANCA)	ENSP00000512523.1:n.*245T>G
ENST00000696287.1:c.*117T>G (FANCA)	ENSP00000512524.1:n.*117T>G
ENST00000696291.1:c.*3937T>G (FANCA)	ENSP00000512530.1:n.*3937T>G
ENST00000389301.8:c.4332T>G (FANCA) MANE Select	ENSP00000373952.3:p.Pro1444=
ENST00000443381.7:c.*391A>C (ZNF276) MANE Select	ENSP00000415836.2:n.*391A>C
ENST00000289816.9:c.*391A>C (ZNF276)	ENSP00000289816.5:n.*391A>C
ENST00000389301.7:c.4332T>G (FANCA)	ENSP00000373952.3:p.Pro1444=
ENST00000561722.5:c.552T>G (FANCA)	ENSP00000456608.1:p.Pro184=
ENST00000562424.1:n.603T>G (FANCA)
ENST00000563983.5:n.2224A>C (ZNF276)
ENST00000567879.5:c.706T>G (FANCA)	ENSP00000457006.1:n.706T>G
ENST00000568369.5:c.*61T>G (FANCA)	ENSP00000456829.1:n.*61T>G
NM_000135.2:c.4332T>G , LRG_495t1:c.4332T>G (FANCA)	NP_000126.2:p.Pro1444=
NM_001113525.1:c.*391A>C (ZNF276)	NP_001106997.1:n.*391A>C
NM_001286167.1:c.*61T>G (FANCA)	NP_001273096.1:n.*61T>G
NM_152287.3:c.*391A>C (ZNF276)	NP_689500.2:n.*391A>C
NR_110122.1:n.2408A>C (ZNF276)
NR_110126.1:n.2291A>C (ZNF276)
NR_110128.1:n.2214A>C (ZNF276)
NR_110129.1:n.2303A>C (ZNF276)
XR_933244.1:n.4299T>G (FANCA)
XR_933245.1:n.4236T>G (FANCA)
NM_000135.3:c.4332T>G (FANCA)	NP_000126.2:p.Pro1444=
NM_001286167.2:c.*61T>G (FANCA)	NP_001273096.1:n.*61T>G
XM_005256294.4:c.*117T>G (FANCA)	XP_005256351.1:n.*117T>G
XM_011522945.2:c.*117T>G (FANCA)	XP_011521247.1:n.*117T>G
XM_011522946.3:c.*117T>G (FANCA)	XP_011521248.1:n.*117T>G
XM_011522947.2:c.*117T>G (FANCA)	XP_011521249.1:n.*117T>G
XM_017023044.2:c.4203T>G (FANCA)	XP_016878533.1:p.Pro1401=
XM_017023890.1:c.*391A>C (ZNF276)	XP_016879379.1:n.*391A>C
XM_024450189.1:c.*117T>G (FANCA)	XP_024305957.1:n.*117T>G
XR_933244.2:n.4299T>G (FANCA)
XR_933245.2:n.4236T>G (FANCA)
XR_933484.2:n.2402A>C (ZNF276)
NM_000135.4:c.4332T>G (FANCA) MANE Select	NP_000126.2:p.Pro1444=
NM_001113525.2:c.*391A>C (ZNF276) MANE Select	NP_001106997.1:n.*391A>C
NM_001286167.3:c.*61T>G (FANCA)	NP_001273096.1:n.*61T>G
NM_152287.4:c.*391A>C (ZNF276)	NP_689500.2:n.*391A>C
NR_110122.2:n.2391A>C (ZNF276)
NR_110126.2:n.2274A>C (ZNF276)
NR_110129.2:n.2308A>C (ZNF276)
NR_110128.2:n.2214A>C (ZNF276)