Canonical Allele Identifier: CA397483700

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 2012164
• ClinVar RCV Id: RCV002838954
• dbSNP Id: rs1182067132
• gnomAD v2: 16-89805363-A-G
• gnomAD v4: 16-89738955-A-G
• MyVariant Identifiers: chr16:g.89805363A>G (hg19) ; chr16:g.89738955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738955A>G , CM000678.2:g.89738955A>G	GRCh38
NC_000016.9:g.89805363A>G , CM000678.1:g.89805363A>G	GRCh37
NC_000016.8:g.88332864A>G	NCBI36
NG_011706.1:g.82703T>C , LRG_495:g.82703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2760T>C (FANCA)	ENSP00000512522.1:n.*2760T>C
ENST00000564475.6:c.4191T>C (FANCA)	ENSP00000454977.2:p.Asp1397=
ENST00000567510.2:c.2761T>C (FANCA)	ENSP00000455969.1:n.2761T>C
ENST00000568369.6:c.4191T>C (FANCA)	ENSP00000456829.1:p.Asp1397=
ENST00000696274.1:n.4148T>C (FANCA)
ENST00000696275.1:c.*3426T>C (FANCA)	ENSP00000512517.1:n.*3426T>C
ENST00000696286.1:c.*100T>C (FANCA)	ENSP00000512523.1:n.*100T>C
ENST00000696287.1:c.4062T>C (FANCA)	ENSP00000512524.1:p.Asp1354=
ENST00000696291.1:c.*3619T>C (FANCA)	ENSP00000512530.1:n.*3619T>C
ENST00000389301.8:c.4187T>C (FANCA) MANE Select	ENSP00000373952.3:p.Ile1396Thr
ENST00000443381.7:c.*709A>G (ZNF276) MANE Select	ENSP00000415836.2:n.*709A>G
ENST00000289816.9:c.*709A>G (ZNF276)	ENSP00000289816.5:n.*709A>G
ENST00000389301.7:c.4187T>C (FANCA)	ENSP00000373952.3:p.Ile1396Thr
ENST00000561722.5:c.436-29T>C (FANCA)	ENSP00000456608.1:n.436-29T>C
ENST00000562424.1:n.458T>C (FANCA)
ENST00000563983.5:n.2542A>G (ZNF276)
ENST00000564475.5:c.521T>C (FANCA)
ENST00000564870.1:c.388T>C (FANCA)
ENST00000567879.5:c.561T>C (FANCA)	ENSP00000457006.1:p.Asp187=
ENST00000568369.5:c.4191T>C (FANCA)	ENSP00000456829.1:p.Asp1397=
NM_000135.2:c.4187T>C , LRG_495t1:c.4187T>C (FANCA)	NP_000126.2:p.Ile1396Thr
NM_001113525.1:c.*709A>G (ZNF276)	NP_001106997.1:n.*709A>G
NM_001286167.1:c.4191T>C (FANCA)	NP_001273096.1:p.Asp1397=
NM_152287.3:c.*709A>G (ZNF276)	NP_689500.2:n.*709A>G
NR_110122.1:n.2726A>G (ZNF276)
NR_110126.1:n.2609A>G (ZNF276)
NR_110128.1:n.2532A>G (ZNF276)
NR_110129.1:n.2621A>G (ZNF276)
XM_005256294.3:c.4191T>C (FANCA)	XP_005256351.1:p.Asp1397=
XM_011522945.1:c.4062T>C (FANCA)	XP_011521247.1:p.Asp1354=
XM_011522946.1:c.3168T>C (FANCA)	XP_011521248.1:p.Asp1056=
XM_011522947.1:c.3168T>C (FANCA)	XP_011521249.1:p.Asp1056=
XR_933244.1:n.4154T>C (FANCA)
XR_933245.1:n.4091T>C (FANCA)
NM_000135.3:c.4187T>C (FANCA)	NP_000126.2:p.Ile1396Thr
NM_001286167.2:c.4191T>C (FANCA)	NP_001273096.1:p.Asp1397=
XM_005256294.4:c.4191T>C (FANCA)	XP_005256351.1:p.Asp1397=
XM_011522945.2:c.4062T>C (FANCA)	XP_011521247.1:p.Asp1354=
XM_011522946.3:c.3168T>C (FANCA)	XP_011521248.1:p.Asp1056=
XM_011522947.2:c.3168T>C (FANCA)	XP_011521249.1:p.Asp1056=
XM_017023044.2:c.4058T>C (FANCA)	XP_016878533.1:p.Ile1353Thr
XM_017023890.1:c.*709A>G (ZNF276)	XP_016879379.1:n.*709A>G
XM_024450189.1:c.3168T>C (FANCA)	XP_024305957.1:p.Asp1056=
XR_933244.2:n.4154T>C (FANCA)
XR_933245.2:n.4091T>C (FANCA)
XR_933484.2:n.2720A>G (ZNF276)
NM_000135.4:c.4187T>C (FANCA) MANE Select	NP_000126.2:p.Ile1396Thr
NM_001113525.2:c.*709A>G (ZNF276) MANE Select	NP_001106997.1:n.*709A>G
NM_001286167.3:c.4191T>C (FANCA)	NP_001273096.1:p.Asp1397=
NM_152287.4:c.*709A>G (ZNF276)	NP_689500.2:n.*709A>G
NR_110122.2:n.2709A>G (ZNF276)
NR_110126.2:n.2592A>G (ZNF276)
NR_110129.2:n.2626A>G (ZNF276)
NR_110128.2:n.2532A>G (ZNF276)