Canonical Allele Identifier: CA397484728

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739476A>G , CM000678.2:g.89739476A>G	GRCh38
NC_000016.9:g.89805884A>G , CM000678.1:g.89805884A>G	GRCh37
NC_000016.8:g.88333385A>G	NCBI36
NG_011706.1:g.82182T>C , LRG_495:g.82182T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.4010+2T>C (FANCA) MANE Select	NP_000126.2:n.4010+2T>C
NM_001113525.2:c.*1230A>G (ZNF276) MANE Select	NP_001106997.1:n.*1230A>G
ENST00000389301.8:c.4010+2T>C (FANCA) MANE Select	ENSP00000373952.3:n.4010+2T>C
ENST00000443381.7:c.*1230A>G (ZNF276) MANE Select	ENSP00000415836.2:n.*1230A>G
NM_000135.2:c.4010+2T>C , LRG_495t1:c.4010+2T>C (FANCA)	NP_000126.2:n.4010+2T>C
NM_000135.3:c.4010+2T>C (FANCA)	NP_000126.2:n.4010+2T>C
NM_001113525.1:c.*1230A>G (ZNF276)	NP_001106997.1:n.*1230A>G
NM_001286167.1:c.4010+2T>C (FANCA)	NP_001273096.1:n.4010+2T>C
NM_001286167.2:c.4010+2T>C (FANCA)	NP_001273096.1:n.4010+2T>C
NM_001286167.3:c.4010+2T>C (FANCA)	NP_001273096.1:n.4010+2T>C
NM_152287.3:c.*1230A>G (ZNF276)	NP_689500.2:n.*1230A>G
NM_152287.4:c.*1230A>G (ZNF276)	NP_689500.2:n.*1230A>G
NR_110122.1:n.3247A>G (ZNF276)
NR_110122.2:n.3230A>G (ZNF276)
NR_110126.1:n.3130A>G (ZNF276)
NR_110126.2:n.3113A>G (ZNF276)
NR_110128.1:n.3053A>G (ZNF276)
NR_110128.2:n.3053A>G (ZNF276)
NR_110129.1:n.3142A>G (ZNF276)
NR_110129.2:n.3147A>G (ZNF276)
ENST00000289816.9:c.*1230A>G (ZNF276)	ENSP00000289816.5:n.*1230A>G
ENST00000389301.7:c.4010+2T>C (FANCA)	ENSP00000373952.3:n.4010+2T>C
ENST00000561667.2:c.*2583+2T>C (FANCA)	ENSP00000512522.1:n.*2583+2T>C
ENST00000561722.5:c.161+2T>C (FANCA)	ENSP00000456608.1:n.161+2T>C
ENST00000562424.1:n.281+2T>C (FANCA)
ENST00000563983.5:n.3063A>G (ZNF276)
ENST00000564475.5:c.340+2T>C (FANCA)
ENST00000564475.6:c.4010+2T>C (FANCA)	ENSP00000454977.2:n.4010+2T>C
ENST00000564870.1:c.211+2T>C (FANCA)
ENST00000564969.5:n.737T>C (FANCA)
ENST00000567510.2:c.2580+2T>C (FANCA)	ENSP00000455969.1:n.2580+2T>C
ENST00000567879.5:c.413-210T>C (FANCA)	ENSP00000457006.1:n.413-210T>C
ENST00000568369.5:c.4010+2T>C (FANCA)	ENSP00000456829.1:n.4010+2T>C
ENST00000568369.6:c.4010+2T>C (FANCA)	ENSP00000456829.1:n.4010+2T>C
ENST00000568626.1:c.719+2T>C (FANCA)
ENST00000696274.1:n.3971+2T>C (FANCA)
ENST00000696275.1:c.*3245+2T>C (FANCA)	ENSP00000512517.1:n.*3245+2T>C
ENST00000696286.1:c.3935-187T>C (FANCA)	ENSP00000512523.1:n.3935-187T>C
ENST00000696287.1:c.3881+2T>C (FANCA)	ENSP00000512524.1:n.3881+2T>C
ENST00000696291.1:c.*3442+2T>C (FANCA)	ENSP00000512530.1:n.*3442+2T>C
XM_005256294.3:c.4010+2T>C (FANCA)	XP_005256351.1:n.4010+2T>C
XM_005256294.4:c.4010+2T>C (FANCA)	XP_005256351.1:n.4010+2T>C
XM_011522945.1:c.3881+2T>C (FANCA)	XP_011521247.1:n.3881+2T>C
XM_011522945.2:c.3881+2T>C (FANCA)	XP_011521247.1:n.3881+2T>C
XM_011522946.1:c.2987+2T>C (FANCA)	XP_011521248.1:n.2987+2T>C
XM_011522946.3:c.2987+2T>C (FANCA)	XP_011521248.1:n.2987+2T>C
XM_011522947.1:c.2987+2T>C (FANCA)	XP_011521249.1:n.2987+2T>C
XM_011522947.2:c.2987+2T>C (FANCA)	XP_011521249.1:n.2987+2T>C
XM_017023044.2:c.3881+2T>C (FANCA)	XP_016878533.1:n.3881+2T>C
XM_017023890.1:c.*1230A>G (ZNF276)	XP_016879379.1:n.*1230A>G
XM_024450189.1:c.2987+2T>C (FANCA)	XP_024305957.1:n.2987+2T>C
XR_001751866.1:n.3880+2T>C (FANCA)
XR_933244.1:n.3978-187T>C (FANCA)
XR_933244.2:n.3978-187T>C (FANCA)
XR_933245.1:n.3914+2T>C (FANCA)
XR_933245.2:n.3914+2T>C (FANCA)
XR_933484.2:n.3241A>G (ZNF276)