Canonical Allele Identifier: CA8250663

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738876C>G , CM000678.2:g.89738876C>G	GRCh38
NC_000016.9:g.89805284C>G , CM000678.1:g.89805284C>G	GRCh37
NC_000016.8:g.88332785C>G	NCBI36
NG_011706.1:g.82782G>C , LRG_495:g.82782G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.4260+6G>C (FANCA) MANE Select	NP_000126.2:n.4260+6G>C
NM_001113525.2:c.*630C>G (ZNF276) MANE Select	NP_001106997.1:n.*630C>G
ENST00000389301.8:c.4260+6G>C (FANCA) MANE Select	ENSP00000373952.3:n.4260+6G>C
ENST00000443381.7:c.*630C>G (ZNF276) MANE Select	ENSP00000415836.2:n.*630C>G
NM_000135.2:c.4260+6G>C , LRG_495t1:c.4260+6G>C (FANCA)	NP_000126.2:n.4260+6G>C
NM_000135.3:c.4260+6G>C (FANCA)	NP_000126.2:n.4260+6G>C
NM_001113525.1:c.*630C>G (ZNF276)	NP_001106997.1:n.*630C>G
NM_001286167.1:c.4264+6G>C (FANCA)	NP_001273096.1:n.4264+6G>C
NM_001286167.2:c.4264+6G>C (FANCA)	NP_001273096.1:n.4264+6G>C
NM_001286167.3:c.4264+6G>C (FANCA)	NP_001273096.1:n.4264+6G>C
NM_152287.3:c.*630C>G (ZNF276)	NP_689500.2:n.*630C>G
NM_152287.4:c.*630C>G (ZNF276)	NP_689500.2:n.*630C>G
NR_110122.1:n.2647C>G (ZNF276)
NR_110122.2:n.2630C>G (ZNF276)
NR_110126.1:n.2530C>G (ZNF276)
NR_110126.2:n.2513C>G (ZNF276)
NR_110128.1:n.2453C>G (ZNF276)
NR_110128.2:n.2453C>G (ZNF276)
NR_110129.1:n.2542C>G (ZNF276)
NR_110129.2:n.2547C>G (ZNF276)
ENST00000289816.9:c.*630C>G (ZNF276)	ENSP00000289816.5:n.*630C>G
ENST00000389301.7:c.4260+6G>C (FANCA)	ENSP00000373952.3:n.4260+6G>C
ENST00000561667.2:c.*2839G>C (FANCA)	ENSP00000512522.1:n.*2839G>C
ENST00000561722.5:c.480+6G>C (FANCA)	ENSP00000456608.1:n.480+6G>C
ENST00000562424.1:n.531+6G>C (FANCA)
ENST00000563983.5:n.2463C>G (ZNF276)
ENST00000564475.5:c.600G>C (FANCA)
ENST00000564475.6:c.4270G>C (FANCA)	ENSP00000454977.2:p.Val1424Leu
ENST00000567510.2:c.2834+6G>C (FANCA)	ENSP00000455969.1:n.2834+6G>C
ENST00000567879.5:c.634+6G>C (FANCA)	ENSP00000457006.1:n.634+6G>C
ENST00000568369.5:c.4264+6G>C (FANCA)	ENSP00000456829.1:n.4264+6G>C
ENST00000568369.6:c.4264+6G>C (FANCA)	ENSP00000456829.1:n.4264+6G>C
ENST00000696274.1:n.4227G>C (FANCA)
ENST00000696275.1:c.*3505G>C (FANCA)	ENSP00000512517.1:n.*3505G>C
ENST00000696286.1:c.*173+6G>C (FANCA)	ENSP00000512523.1:n.*173+6G>C
ENST00000696287.1:c.4141G>C (FANCA)	ENSP00000512524.1:p.Val1381Leu
ENST00000696291.1:c.*3698G>C (FANCA)	ENSP00000512530.1:n.*3698G>C
XM_005256294.3:c.4270G>C (FANCA)	XP_005256351.1:p.Val1424Leu
XM_005256294.4:c.4270G>C (FANCA)	XP_005256351.1:p.Val1424Leu
XM_011522945.1:c.4141G>C (FANCA)	XP_011521247.1:p.Val1381Leu
XM_011522945.2:c.4141G>C (FANCA)	XP_011521247.1:p.Val1381Leu
XM_011522946.1:c.3247G>C (FANCA)	XP_011521248.1:p.Val1083Leu
XM_011522946.3:c.3247G>C (FANCA)	XP_011521248.1:p.Val1083Leu
XM_011522947.1:c.3247G>C (FANCA)	XP_011521249.1:p.Val1083Leu
XM_011522947.2:c.3247G>C (FANCA)	XP_011521249.1:p.Val1083Leu
XM_017023044.2:c.4131+6G>C (FANCA)	XP_016878533.1:n.4131+6G>C
XM_017023890.1:c.*630C>G (ZNF276)	XP_016879379.1:n.*630C>G
XM_024450189.1:c.3247G>C (FANCA)	XP_024305957.1:p.Val1083Leu
XR_933244.1:n.4227+6G>C (FANCA)
XR_933244.2:n.4227+6G>C (FANCA)
XR_933245.1:n.4164+6G>C (FANCA)
XR_933245.2:n.4164+6G>C (FANCA)
XR_933484.2:n.2641C>G (ZNF276)