Canonical Allele Identifier: CA8250909

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739992A>G , CM000678.2:g.89739992A>G	GRCh38
NC_000016.9:g.89806400A>G , CM000678.1:g.89806400A>G	GRCh37
NC_000016.8:g.88333901A>G	NCBI36
NG_011706.1:g.81666T>C , LRG_495:g.81666T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3934+2T>C (FANCA) MANE Select	NP_000126.2:n.3934+2T>C
NM_001113525.2:c.*1746A>G (ZNF276) MANE Select	NP_001106997.1:n.*1746A>G
ENST00000389301.8:c.3934+2T>C (FANCA) MANE Select	ENSP00000373952.3:n.3934+2T>C
ENST00000443381.7:c.*1746A>G (ZNF276) MANE Select	ENSP00000415836.2:n.*1746A>G
NM_000135.2:c.3934+2T>C , LRG_495t1:c.3934+2T>C (FANCA)	NP_000126.2:n.3934+2T>C
NM_000135.3:c.3934+2T>C (FANCA)	NP_000126.2:n.3934+2T>C
NM_001113525.1:c.*1746A>G (ZNF276)	NP_001106997.1:n.*1746A>G
NM_001286167.1:c.3934+2T>C (FANCA)	NP_001273096.1:n.3934+2T>C
NM_001286167.2:c.3934+2T>C (FANCA)	NP_001273096.1:n.3934+2T>C
NM_001286167.3:c.3934+2T>C (FANCA)	NP_001273096.1:n.3934+2T>C
NM_152287.3:c.*1746A>G (ZNF276)	NP_689500.2:n.*1746A>G
NM_152287.4:c.*1746A>G (ZNF276)	NP_689500.2:n.*1746A>G
NR_110122.2:n.3746A>G (ZNF276)
NR_110126.2:n.3629A>G (ZNF276)
NR_110128.2:n.3569A>G (ZNF276)
NR_110129.2:n.3663A>G (ZNF276)
ENST00000289816.9:c.*1746A>G (ZNF276)	ENSP00000289816.5:n.*1746A>G
ENST00000305699.15:n.1179T>C (FANCA)
ENST00000389301.7:c.3934+2T>C (FANCA)	ENSP00000373952.3:n.3934+2T>C
ENST00000561667.2:c.*2412+2T>C (FANCA)	ENSP00000512522.1:n.*2412+2T>C
ENST00000561722.5:c.85+2T>C (FANCA)	ENSP00000456608.1:n.85+2T>C
ENST00000564475.5:c.264+2T>C (FANCA)
ENST00000564475.6:c.3934+2T>C (FANCA)	ENSP00000454977.2:n.3934+2T>C
ENST00000564870.1:c.135+2T>C (FANCA)
ENST00000564969.5:n.221T>C (FANCA)
ENST00000567510.2:c.2504+2T>C (FANCA)	ENSP00000455969.1:n.2504+2T>C
ENST00000567879.5:c.412+2T>C (FANCA)	ENSP00000457006.1:n.412+2T>C
ENST00000568369.5:c.3934+2T>C (FANCA)	ENSP00000456829.1:n.3934+2T>C
ENST00000568369.6:c.3934+2T>C (FANCA)	ENSP00000456829.1:n.3934+2T>C
ENST00000568626.1:c.643+2T>C (FANCA)
ENST00000696274.1:n.3895+2T>C (FANCA)
ENST00000696275.1:c.*3169+2T>C (FANCA)	ENSP00000512517.1:n.*3169+2T>C
ENST00000696286.1:c.3934+2T>C (FANCA)	ENSP00000512523.1:n.3934+2T>C
ENST00000696287.1:c.3805+2T>C (FANCA)	ENSP00000512524.1:n.3805+2T>C
ENST00000696291.1:c.*3366+2T>C (FANCA)	ENSP00000512530.1:n.*3366+2T>C
XM_005256294.3:c.3934+2T>C (FANCA)	XP_005256351.1:n.3934+2T>C
XM_005256294.4:c.3934+2T>C (FANCA)	XP_005256351.1:n.3934+2T>C
XM_011522945.1:c.3805+2T>C (FANCA)	XP_011521247.1:n.3805+2T>C
XM_011522945.2:c.3805+2T>C (FANCA)	XP_011521247.1:n.3805+2T>C
XM_011522946.1:c.2911+2T>C (FANCA)	XP_011521248.1:n.2911+2T>C
XM_011522946.3:c.2911+2T>C (FANCA)	XP_011521248.1:n.2911+2T>C
XM_011522947.1:c.2911+2T>C (FANCA)	XP_011521249.1:n.2911+2T>C
XM_011522947.2:c.2911+2T>C (FANCA)	XP_011521249.1:n.2911+2T>C
XM_017023044.2:c.3805+2T>C (FANCA)	XP_016878533.1:n.3805+2T>C
XM_024450189.1:c.2911+2T>C (FANCA)	XP_024305957.1:n.2911+2T>C
XR_001751866.1:n.3804+2T>C (FANCA)
XR_933244.1:n.3977+2T>C (FANCA)
XR_933244.2:n.3977+2T>C (FANCA)
XR_933245.1:n.3838+2T>C (FANCA)
XR_933245.2:n.3838+2T>C (FANCA)