Canonical Allele Identifier: CA397483094

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738675C>G , CM000678.2:g.89738675C>G	GRCh38
NC_000016.9:g.89805083C>G , CM000678.1:g.89805083C>G	GRCh37
NC_000016.8:g.88332584C>G	NCBI36
NG_011706.1:g.82983G>C , LRG_495:g.82983G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.4294G>C (FANCA) MANE Select	NP_000126.2:p.Val1432Leu
NM_001113525.2:c.*429C>G (ZNF276) MANE Select	NP_001106997.1:n.*429C>G
ENST00000389301.8:c.4294G>C (FANCA) MANE Select	ENSP00000373952.3:p.Val1432Leu
ENST00000443381.7:c.*429C>G (ZNF276) MANE Select	ENSP00000415836.2:n.*429C>G
NM_000135.2:c.4294G>C , LRG_495t1:c.4294G>C (FANCA)	NP_000126.2:p.Val1432Leu
NM_000135.3:c.4294G>C (FANCA)	NP_000126.2:p.Val1432Leu
NM_001113525.1:c.*429C>G (ZNF276)	NP_001106997.1:n.*429C>G
NM_001286167.1:c.*23G>C (FANCA)	NP_001273096.1:n.*23G>C
NM_001286167.2:c.*23G>C (FANCA)	NP_001273096.1:n.*23G>C
NM_001286167.3:c.*23G>C (FANCA)	NP_001273096.1:n.*23G>C
NM_152287.3:c.*429C>G (ZNF276)	NP_689500.2:n.*429C>G
NM_152287.4:c.*429C>G (ZNF276)	NP_689500.2:n.*429C>G
NR_110122.1:n.2446C>G (ZNF276)
NR_110122.2:n.2429C>G (ZNF276)
NR_110126.1:n.2329C>G (ZNF276)
NR_110126.2:n.2312C>G (ZNF276)
NR_110128.1:n.2252C>G (ZNF276)
NR_110128.2:n.2252C>G (ZNF276)
NR_110129.1:n.2341C>G (ZNF276)
NR_110129.2:n.2346C>G (ZNF276)
ENST00000289816.9:c.*429C>G (ZNF276)	ENSP00000289816.5:n.*429C>G
ENST00000389301.7:c.4294G>C (FANCA)	ENSP00000373952.3:p.Val1432Leu
ENST00000561667.2:c.*3040G>C (FANCA)	ENSP00000512522.1:n.*3040G>C
ENST00000561722.5:c.514G>C (FANCA)	ENSP00000456608.1:p.Val172Leu
ENST00000562424.1:n.565G>C (FANCA)
ENST00000563983.5:n.2262C>G (ZNF276)
ENST00000564475.6:c.*79G>C (FANCA)	ENSP00000454977.2:n.*79G>C
ENST00000567510.2:c.2868G>C (FANCA)	ENSP00000455969.1:n.2868G>C
ENST00000567879.5:c.668G>C (FANCA)	ENSP00000457006.1:n.668G>C
ENST00000568369.5:c.*23G>C (FANCA)	ENSP00000456829.1:n.*23G>C
ENST00000568369.6:c.*23G>C (FANCA)	ENSP00000456829.1:n.*23G>C
ENST00000696274.1:n.4428G>C (FANCA)
ENST00000696275.1:c.*3706G>C (FANCA)	ENSP00000512517.1:n.*3706G>C
ENST00000696286.1:c.*207G>C (FANCA)	ENSP00000512523.1:n.*207G>C
ENST00000696287.1:c.*79G>C (FANCA)	ENSP00000512524.1:n.*79G>C
ENST00000696291.1:c.*3899G>C (FANCA)	ENSP00000512530.1:n.*3899G>C
XM_005256294.4:c.*79G>C (FANCA)	XP_005256351.1:n.*79G>C
XM_011522945.2:c.*79G>C (FANCA)	XP_011521247.1:n.*79G>C
XM_011522946.3:c.*79G>C (FANCA)	XP_011521248.1:n.*79G>C
XM_011522947.2:c.*79G>C (FANCA)	XP_011521249.1:n.*79G>C
XM_017023044.2:c.4165G>C (FANCA)	XP_016878533.1:p.Val1389Leu
XM_017023890.1:c.*429C>G (ZNF276)	XP_016879379.1:n.*429C>G
XM_024450189.1:c.*79G>C (FANCA)	XP_024305957.1:n.*79G>C
XR_933244.1:n.4261G>C (FANCA)
XR_933244.2:n.4261G>C (FANCA)
XR_933245.1:n.4198G>C (FANCA)
XR_933245.2:n.4198G>C (FANCA)
XR_933484.2:n.2440C>G (ZNF276)