Canonical Allele Identifier: CA8250583

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738669C>T , CM000678.2:g.89738669C>T	GRCh38
NC_000016.9:g.89805077C>T , CM000678.1:g.89805077C>T	GRCh37
NC_000016.8:g.88332578C>T	NCBI36
NG_011706.1:g.82989G>A , LRG_495:g.82989G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.4300G>A (FANCA) MANE Select	NP_000126.2:p.Ala1434Thr
NM_001113525.2:c.*423C>T (ZNF276) MANE Select	NP_001106997.1:n.*423C>T
ENST00000389301.8:c.4300G>A (FANCA) MANE Select	ENSP00000373952.3:p.Ala1434Thr
ENST00000443381.7:c.*423C>T (ZNF276) MANE Select	ENSP00000415836.2:n.*423C>T
NM_000135.2:c.4300G>A , LRG_495t1:c.4300G>A (FANCA)	NP_000126.2:p.Ala1434Thr
NM_000135.3:c.4300G>A (FANCA)	NP_000126.2:p.Ala1434Thr
NM_001113525.1:c.*423C>T (ZNF276)	NP_001106997.1:n.*423C>T
NM_001286167.1:c.*29G>A (FANCA)	NP_001273096.1:n.*29G>A
NM_001286167.2:c.*29G>A (FANCA)	NP_001273096.1:n.*29G>A
NM_001286167.3:c.*29G>A (FANCA)	NP_001273096.1:n.*29G>A
NM_152287.3:c.*423C>T (ZNF276)	NP_689500.2:n.*423C>T
NM_152287.4:c.*423C>T (ZNF276)	NP_689500.2:n.*423C>T
NR_110122.1:n.2440C>T (ZNF276)
NR_110122.2:n.2423C>T (ZNF276)
NR_110126.1:n.2323C>T (ZNF276)
NR_110126.2:n.2306C>T (ZNF276)
NR_110128.1:n.2246C>T (ZNF276)
NR_110128.2:n.2246C>T (ZNF276)
NR_110129.1:n.2335C>T (ZNF276)
NR_110129.2:n.2340C>T (ZNF276)
ENST00000289816.9:c.*423C>T (ZNF276)	ENSP00000289816.5:n.*423C>T
ENST00000389301.7:c.4300G>A (FANCA)	ENSP00000373952.3:p.Ala1434Thr
ENST00000561667.2:c.*3046G>A (FANCA)	ENSP00000512522.1:n.*3046G>A
ENST00000561722.5:c.520G>A (FANCA)	ENSP00000456608.1:p.Ala174Thr
ENST00000562424.1:n.571G>A (FANCA)
ENST00000563983.5:n.2256C>T (ZNF276)
ENST00000564475.6:c.*85G>A (FANCA)	ENSP00000454977.2:n.*85G>A
ENST00000567510.2:c.2874G>A (FANCA)	ENSP00000455969.1:n.2874G>A
ENST00000567879.5:c.674G>A (FANCA)	ENSP00000457006.1:n.674G>A
ENST00000568369.5:c.*29G>A (FANCA)	ENSP00000456829.1:n.*29G>A
ENST00000568369.6:c.*29G>A (FANCA)	ENSP00000456829.1:n.*29G>A
ENST00000696274.1:n.4434G>A (FANCA)
ENST00000696275.1:c.*3712G>A (FANCA)	ENSP00000512517.1:n.*3712G>A
ENST00000696286.1:c.*213G>A (FANCA)	ENSP00000512523.1:n.*213G>A
ENST00000696287.1:c.*85G>A (FANCA)	ENSP00000512524.1:n.*85G>A
ENST00000696291.1:c.*3905G>A (FANCA)	ENSP00000512530.1:n.*3905G>A
XM_005256294.4:c.*85G>A (FANCA)	XP_005256351.1:n.*85G>A
XM_011522945.2:c.*85G>A (FANCA)	XP_011521247.1:n.*85G>A
XM_011522946.3:c.*85G>A (FANCA)	XP_011521248.1:n.*85G>A
XM_011522947.2:c.*85G>A (FANCA)	XP_011521249.1:n.*85G>A
XM_017023044.2:c.4171G>A (FANCA)	XP_016878533.1:p.Ala1391Thr
XM_017023890.1:c.*423C>T (ZNF276)	XP_016879379.1:n.*423C>T
XM_024450189.1:c.*85G>A (FANCA)	XP_024305957.1:n.*85G>A
XR_933244.1:n.4267G>A (FANCA)
XR_933244.2:n.4267G>A (FANCA)
XR_933245.1:n.4204G>A (FANCA)
XR_933245.2:n.4204G>A (FANCA)
XR_933484.2:n.2434C>T (ZNF276)