Canonical Allele Identifier: CA397483096

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738676C>G , CM000678.2:g.89738676C>G	GRCh38
NC_000016.9:g.89805084C>G , CM000678.1:g.89805084C>G	GRCh37
NC_000016.8:g.88332585C>G	NCBI36
NG_011706.1:g.82982G>C , LRG_495:g.82982G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.4293G>C (FANCA) MANE Select	NP_000126.2:p.Glu1431Asp
NM_001113525.2:c.*430C>G (ZNF276) MANE Select	NP_001106997.1:n.*430C>G
ENST00000389301.8:c.4293G>C (FANCA) MANE Select	ENSP00000373952.3:p.Glu1431Asp
ENST00000443381.7:c.*430C>G (ZNF276) MANE Select	ENSP00000415836.2:n.*430C>G
NM_000135.2:c.4293G>C , LRG_495t1:c.4293G>C (FANCA)	NP_000126.2:p.Glu1431Asp
NM_000135.3:c.4293G>C (FANCA)	NP_000126.2:p.Glu1431Asp
NM_001113525.1:c.*430C>G (ZNF276)	NP_001106997.1:n.*430C>G
NM_001286167.1:c.*22G>C (FANCA)	NP_001273096.1:n.*22G>C
NM_001286167.2:c.*22G>C (FANCA)	NP_001273096.1:n.*22G>C
NM_001286167.3:c.*22G>C (FANCA)	NP_001273096.1:n.*22G>C
NM_152287.3:c.*430C>G (ZNF276)	NP_689500.2:n.*430C>G
NM_152287.4:c.*430C>G (ZNF276)	NP_689500.2:n.*430C>G
NR_110122.1:n.2447C>G (ZNF276)
NR_110122.2:n.2430C>G (ZNF276)
NR_110126.1:n.2330C>G (ZNF276)
NR_110126.2:n.2313C>G (ZNF276)
NR_110128.1:n.2253C>G (ZNF276)
NR_110128.2:n.2253C>G (ZNF276)
NR_110129.1:n.2342C>G (ZNF276)
NR_110129.2:n.2347C>G (ZNF276)
ENST00000289816.9:c.*430C>G (ZNF276)	ENSP00000289816.5:n.*430C>G
ENST00000389301.7:c.4293G>C (FANCA)	ENSP00000373952.3:p.Glu1431Asp
ENST00000561667.2:c.*3039G>C (FANCA)	ENSP00000512522.1:n.*3039G>C
ENST00000561722.5:c.513G>C (FANCA)	ENSP00000456608.1:p.Glu171Asp
ENST00000562424.1:n.564G>C (FANCA)
ENST00000563983.5:n.2263C>G (ZNF276)
ENST00000564475.6:c.*78G>C (FANCA)	ENSP00000454977.2:n.*78G>C
ENST00000567510.2:c.2867G>C (FANCA)	ENSP00000455969.1:n.2867G>C
ENST00000567879.5:c.667G>C (FANCA)	ENSP00000457006.1:n.667G>C
ENST00000568369.5:c.*22G>C (FANCA)	ENSP00000456829.1:n.*22G>C
ENST00000568369.6:c.*22G>C (FANCA)	ENSP00000456829.1:n.*22G>C
ENST00000696274.1:n.4427G>C (FANCA)
ENST00000696275.1:c.*3705G>C (FANCA)	ENSP00000512517.1:n.*3705G>C
ENST00000696286.1:c.*206G>C (FANCA)	ENSP00000512523.1:n.*206G>C
ENST00000696287.1:c.*78G>C (FANCA)	ENSP00000512524.1:n.*78G>C
ENST00000696291.1:c.*3898G>C (FANCA)	ENSP00000512530.1:n.*3898G>C
XM_005256294.4:c.*78G>C (FANCA)	XP_005256351.1:n.*78G>C
XM_011522945.2:c.*78G>C (FANCA)	XP_011521247.1:n.*78G>C
XM_011522946.3:c.*78G>C (FANCA)	XP_011521248.1:n.*78G>C
XM_011522947.2:c.*78G>C (FANCA)	XP_011521249.1:n.*78G>C
XM_017023044.2:c.4164G>C (FANCA)	XP_016878533.1:p.Glu1388Asp
XM_017023890.1:c.*430C>G (ZNF276)	XP_016879379.1:n.*430C>G
XM_024450189.1:c.*78G>C (FANCA)	XP_024305957.1:n.*78G>C
XR_933244.1:n.4260G>C (FANCA)
XR_933244.2:n.4260G>C (FANCA)
XR_933245.1:n.4197G>C (FANCA)
XR_933245.2:n.4197G>C (FANCA)
XR_933484.2:n.2441C>G (ZNF276)