Canonical Allele Identifier: CA497379214

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738697A>G , CM000678.2:g.89738697A>G	GRCh38
NC_000016.9:g.89805105A>G , CM000678.1:g.89805105A>G	GRCh37
NC_000016.8:g.88332606A>G	NCBI36
NG_011706.1:g.82961T>C , LRG_495:g.82961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*3018T>C (FANCA)	ENSP00000512522.1:n.*3018T>C
ENST00000564475.6:c.*57T>C (FANCA)	ENSP00000454977.2:n.*57T>C
ENST00000567510.2:c.2846T>C (FANCA)	ENSP00000455969.1:n.2846T>C
ENST00000568369.6:c.*1T>C (FANCA)	ENSP00000456829.1:n.*1T>C
ENST00000696274.1:n.4406T>C (FANCA)
ENST00000696275.1:c.*3684T>C (FANCA)	ENSP00000512517.1:n.*3684T>C
ENST00000696286.1:c.*185T>C (FANCA)	ENSP00000512523.1:n.*185T>C
ENST00000696287.1:c.*57T>C (FANCA)	ENSP00000512524.1:n.*57T>C
ENST00000696291.1:c.*3877T>C (FANCA)	ENSP00000512530.1:n.*3877T>C
ENST00000389301.8:c.4272T>C (FANCA) MANE Select	ENSP00000373952.3:p.Asp1424=
ENST00000443381.7:c.*451A>G (ZNF276) MANE Select	ENSP00000415836.2:n.*451A>G
ENST00000289816.9:c.*451A>G (ZNF276)	ENSP00000289816.5:n.*451A>G
ENST00000389301.7:c.4272T>C (FANCA)	ENSP00000373952.3:p.Asp1424=
ENST00000561722.5:c.492T>C (FANCA)	ENSP00000456608.1:p.Asp164=
ENST00000562424.1:n.543T>C (FANCA)
ENST00000563983.5:n.2284A>G (ZNF276)
ENST00000567879.5:c.646T>C (FANCA)	ENSP00000457006.1:n.646T>C
ENST00000568369.5:c.*1T>C (FANCA)	ENSP00000456829.1:n.*1T>C
NM_000135.2:c.4272T>C , LRG_495t1:c.4272T>C (FANCA)	NP_000126.2:p.Asp1424=
NM_001113525.1:c.*451A>G (ZNF276)	NP_001106997.1:n.*451A>G
NM_001286167.1:c.*1T>C (FANCA)	NP_001273096.1:n.*1T>C
NM_152287.3:c.*451A>G (ZNF276)	NP_689500.2:n.*451A>G
NR_110122.1:n.2468A>G (ZNF276)
NR_110126.1:n.2351A>G (ZNF276)
NR_110128.1:n.2274A>G (ZNF276)
NR_110129.1:n.2363A>G (ZNF276)
XR_933244.1:n.4239T>C (FANCA)
XR_933245.1:n.4176T>C (FANCA)
NM_000135.3:c.4272T>C (FANCA)	NP_000126.2:p.Asp1424=
NM_001286167.2:c.*1T>C (FANCA)	NP_001273096.1:n.*1T>C
XM_005256294.4:c.*57T>C (FANCA)	XP_005256351.1:n.*57T>C
XM_011522945.2:c.*57T>C (FANCA)	XP_011521247.1:n.*57T>C
XM_011522946.3:c.*57T>C (FANCA)	XP_011521248.1:n.*57T>C
XM_011522947.2:c.*57T>C (FANCA)	XP_011521249.1:n.*57T>C
XM_017023044.2:c.4143T>C (FANCA)	XP_016878533.1:p.Asp1381=
XM_017023890.1:c.*451A>G (ZNF276)	XP_016879379.1:n.*451A>G
XM_024450189.1:c.*57T>C (FANCA)	XP_024305957.1:n.*57T>C
XR_933244.2:n.4239T>C (FANCA)
XR_933245.2:n.4176T>C (FANCA)
XR_933484.2:n.2462A>G (ZNF276)
NM_000135.4:c.4272T>C (FANCA) MANE Select	NP_000126.2:p.Asp1424=
NM_001113525.2:c.*451A>G (ZNF276) MANE Select	NP_001106997.1:n.*451A>G
NM_001286167.3:c.*1T>C (FANCA)	NP_001273096.1:n.*1T>C
NM_152287.4:c.*451A>G (ZNF276)	NP_689500.2:n.*451A>G
NR_110122.2:n.2451A>G (ZNF276)
NR_110126.2:n.2334A>G (ZNF276)
NR_110129.2:n.2368A>G (ZNF276)
NR_110128.2:n.2274A>G (ZNF276)