Canonical Allele Identifier: CA8250674

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738898A>C , CM000678.2:g.89738898A>C	GRCh38
NC_000016.9:g.89805306A>C , CM000678.1:g.89805306A>C	GRCh37
NC_000016.8:g.88332807A>C	NCBI36
NG_011706.1:g.82760T>G , LRG_495:g.82760T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.4244T>G (FANCA) MANE Select	NP_000126.2:p.Phe1415Cys
NM_001113525.2:c.*652A>C (ZNF276) MANE Select	NP_001106997.1:n.*652A>C
ENST00000389301.8:c.4244T>G (FANCA) MANE Select	ENSP00000373952.3:p.Phe1415Cys
ENST00000443381.7:c.*652A>C (ZNF276) MANE Select	ENSP00000415836.2:n.*652A>C
NM_000135.2:c.4244T>G , LRG_495t1:c.4244T>G (FANCA)	NP_000126.2:p.Phe1415Cys
NM_000135.3:c.4244T>G (FANCA)	NP_000126.2:p.Phe1415Cys
NM_001113525.1:c.*652A>C (ZNF276)	NP_001106997.1:n.*652A>C
NM_001286167.1:c.4248T>G (FANCA)	NP_001273096.1:p.Leu1416=
NM_001286167.2:c.4248T>G (FANCA)	NP_001273096.1:p.Leu1416=
NM_001286167.3:c.4248T>G (FANCA)	NP_001273096.1:p.Leu1416=
NM_152287.3:c.*652A>C (ZNF276)	NP_689500.2:n.*652A>C
NM_152287.4:c.*652A>C (ZNF276)	NP_689500.2:n.*652A>C
NR_110122.1:n.2669A>C (ZNF276)
NR_110122.2:n.2652A>C (ZNF276)
NR_110126.1:n.2552A>C (ZNF276)
NR_110126.2:n.2535A>C (ZNF276)
NR_110128.1:n.2475A>C (ZNF276)
NR_110128.2:n.2475A>C (ZNF276)
NR_110129.1:n.2564A>C (ZNF276)
NR_110129.2:n.2569A>C (ZNF276)
ENST00000289816.9:c.*652A>C (ZNF276)	ENSP00000289816.5:n.*652A>C
ENST00000389301.7:c.4244T>G (FANCA)	ENSP00000373952.3:p.Phe1415Cys
ENST00000561667.2:c.*2817T>G (FANCA)	ENSP00000512522.1:n.*2817T>G
ENST00000561722.5:c.464T>G (FANCA)	ENSP00000456608.1:p.Phe155Cys
ENST00000562424.1:n.515T>G (FANCA)
ENST00000563983.5:n.2485A>C (ZNF276)
ENST00000564475.5:c.578T>G (FANCA)
ENST00000564475.6:c.4248T>G (FANCA)	ENSP00000454977.2:p.Leu1416=
ENST00000564870.1:c.445T>G (FANCA)
ENST00000567510.2:c.2818T>G (FANCA)	ENSP00000455969.1:n.2818T>G
ENST00000567879.5:c.618T>G (FANCA)	ENSP00000457006.1:p.Leu206=
ENST00000568369.5:c.4248T>G (FANCA)	ENSP00000456829.1:p.Leu1416=
ENST00000568369.6:c.4248T>G (FANCA)	ENSP00000456829.1:p.Leu1416=
ENST00000696274.1:n.4205T>G (FANCA)
ENST00000696275.1:c.*3483T>G (FANCA)	ENSP00000512517.1:n.*3483T>G
ENST00000696286.1:c.*157T>G (FANCA)	ENSP00000512523.1:n.*157T>G
ENST00000696287.1:c.4119T>G (FANCA)	ENSP00000512524.1:p.Leu1373=
ENST00000696291.1:c.*3676T>G (FANCA)	ENSP00000512530.1:n.*3676T>G
XM_005256294.3:c.4248T>G (FANCA)	XP_005256351.1:p.Leu1416=
XM_005256294.4:c.4248T>G (FANCA)	XP_005256351.1:p.Leu1416=
XM_011522945.1:c.4119T>G (FANCA)	XP_011521247.1:p.Leu1373=
XM_011522945.2:c.4119T>G (FANCA)	XP_011521247.1:p.Leu1373=
XM_011522946.1:c.3225T>G (FANCA)	XP_011521248.1:p.Leu1075=
XM_011522946.3:c.3225T>G (FANCA)	XP_011521248.1:p.Leu1075=
XM_011522947.1:c.3225T>G (FANCA)	XP_011521249.1:p.Leu1075=
XM_011522947.2:c.3225T>G (FANCA)	XP_011521249.1:p.Leu1075=
XM_017023044.2:c.4115T>G (FANCA)	XP_016878533.1:p.Phe1372Cys
XM_017023890.1:c.*652A>C (ZNF276)	XP_016879379.1:n.*652A>C
XM_024450189.1:c.3225T>G (FANCA)	XP_024305957.1:p.Leu1075=
XR_933244.1:n.4211T>G (FANCA)
XR_933244.2:n.4211T>G (FANCA)
XR_933245.1:n.4148T>G (FANCA)
XR_933245.2:n.4148T>G (FANCA)
XR_933484.2:n.2663A>C (ZNF276)