Canonical Allele Identifier: CA397483739

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1962086
• ClinVar RCV Id: RCV002725871
• MyVariant Identifiers: chr16:g.89805368T>C (hg19) ; chr16:g.89738960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738960T>C , CM000678.2:g.89738960T>C	GRCh38
NC_000016.9:g.89805368T>C , CM000678.1:g.89805368T>C	GRCh37
NC_000016.8:g.88332869T>C	NCBI36
NG_011706.1:g.82698A>G , LRG_495:g.82698A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2755A>G (FANCA)	ENSP00000512522.1:n.*2755A>G
ENST00000564475.6:c.4186A>G (FANCA)	ENSP00000454977.2:p.Thr1396Ala
ENST00000567510.2:c.2756A>G (FANCA)	ENSP00000455969.1:n.2756A>G
ENST00000568369.6:c.4186A>G (FANCA)	ENSP00000456829.1:p.Thr1396Ala
ENST00000696274.1:n.4143A>G (FANCA)
ENST00000696275.1:c.*3421A>G (FANCA)	ENSP00000512517.1:n.*3421A>G
ENST00000696286.1:c.*95A>G (FANCA)	ENSP00000512523.1:n.*95A>G
ENST00000696287.1:c.4057A>G (FANCA)	ENSP00000512524.1:p.Thr1353Ala
ENST00000696291.1:c.*3614A>G (FANCA)	ENSP00000512530.1:n.*3614A>G
ENST00000389301.8:c.4182A>G (FANCA) MANE Select	ENSP00000373952.3:p.Glu1394=
ENST00000443381.7:c.*714T>C (ZNF276) MANE Select	ENSP00000415836.2:n.*714T>C
ENST00000289816.9:c.*714T>C (ZNF276)	ENSP00000289816.5:n.*714T>C
ENST00000389301.7:c.4182A>G (FANCA)	ENSP00000373952.3:p.Glu1394=
ENST00000561722.5:c.436-34A>G (FANCA)	ENSP00000456608.1:n.436-34A>G
ENST00000562424.1:n.453A>G (FANCA)
ENST00000563983.5:n.2547T>C (ZNF276)
ENST00000564475.5:c.516A>G (FANCA)
ENST00000564870.1:c.383A>G (FANCA)
ENST00000567879.5:c.556A>G (FANCA)	ENSP00000457006.1:p.Thr186Ala
ENST00000568369.5:c.4186A>G (FANCA)	ENSP00000456829.1:p.Thr1396Ala
NM_000135.2:c.4182A>G , LRG_495t1:c.4182A>G (FANCA)	NP_000126.2:p.Glu1394=
NM_001113525.1:c.*714T>C (ZNF276)	NP_001106997.1:n.*714T>C
NM_001286167.1:c.4186A>G (FANCA)	NP_001273096.1:p.Thr1396Ala
NM_152287.3:c.*714T>C (ZNF276)	NP_689500.2:n.*714T>C
NR_110122.1:n.2731T>C (ZNF276)
NR_110126.1:n.2614T>C (ZNF276)
NR_110128.1:n.2537T>C (ZNF276)
NR_110129.1:n.2626T>C (ZNF276)
XM_005256294.3:c.4186A>G (FANCA)	XP_005256351.1:p.Thr1396Ala
XM_011522945.1:c.4057A>G (FANCA)	XP_011521247.1:p.Thr1353Ala
XM_011522946.1:c.3163A>G (FANCA)	XP_011521248.1:p.Thr1055Ala
XM_011522947.1:c.3163A>G (FANCA)	XP_011521249.1:p.Thr1055Ala
XR_933244.1:n.4149A>G (FANCA)
XR_933245.1:n.4086A>G (FANCA)
NM_000135.3:c.4182A>G (FANCA)	NP_000126.2:p.Glu1394=
NM_001286167.2:c.4186A>G (FANCA)	NP_001273096.1:p.Thr1396Ala
XM_005256294.4:c.4186A>G (FANCA)	XP_005256351.1:p.Thr1396Ala
XM_011522945.2:c.4057A>G (FANCA)	XP_011521247.1:p.Thr1353Ala
XM_011522946.3:c.3163A>G (FANCA)	XP_011521248.1:p.Thr1055Ala
XM_011522947.2:c.3163A>G (FANCA)	XP_011521249.1:p.Thr1055Ala
XM_017023044.2:c.4053A>G (FANCA)	XP_016878533.1:p.Glu1351=
XM_017023890.1:c.*714T>C (ZNF276)	XP_016879379.1:n.*714T>C
XM_024450189.1:c.3163A>G (FANCA)	XP_024305957.1:p.Thr1055Ala
XR_933244.2:n.4149A>G (FANCA)
XR_933245.2:n.4086A>G (FANCA)
XR_933484.2:n.2725T>C (ZNF276)
NM_000135.4:c.4182A>G (FANCA) MANE Select	NP_000126.2:p.Glu1394=
NM_001113525.2:c.*714T>C (ZNF276) MANE Select	NP_001106997.1:n.*714T>C
NM_001286167.3:c.4186A>G (FANCA)	NP_001273096.1:p.Thr1396Ala
NM_152287.4:c.*714T>C (ZNF276)	NP_689500.2:n.*714T>C
NR_110122.2:n.2714T>C (ZNF276)
NR_110126.2:n.2597T>C (ZNF276)
NR_110129.2:n.2631T>C (ZNF276)
NR_110128.2:n.2537T>C (ZNF276)