Canonical Allele Identifier: CA8250772

Gene: FANCA ZNF276

Linked Data

• dbSNP Id: rs774175580
• ExAC: 16:89805560 C / T
• gnomAD v2: 16-89805560-C-T
• gnomAD v3: 16-89739152-C-T
• gnomAD v4: 16-89739152-C-T
• MyVariant Identifiers: chr16:g.89805560C>T (hg19) ; chr16:g.89739152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739152C>T , CM000678.2:g.89739152C>T	GRCh38
NC_000016.9:g.89805560C>T , CM000678.1:g.89805560C>T	GRCh37
NC_000016.8:g.88333061C>T	NCBI36
NG_011706.1:g.82506G>A , LRG_495:g.82506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2721G>A (FANCA)	ENSP00000512522.1:n.*2721G>A
ENST00000564475.6:c.4148G>A (FANCA)	ENSP00000454977.2:p.Ser1383Asn
ENST00000567510.2:c.2718G>A (FANCA)	ENSP00000455969.1:n.2718G>A
ENST00000568369.6:c.4148G>A (FANCA)	ENSP00000456829.1:p.Ser1383Asn
ENST00000696274.1:n.4109G>A (FANCA)
ENST00000696275.1:c.*3383G>A (FANCA)	ENSP00000512517.1:n.*3383G>A
ENST00000696286.1:c.*61G>A (FANCA)	ENSP00000512523.1:n.*61G>A
ENST00000696287.1:c.4019G>A (FANCA)	ENSP00000512524.1:p.Ser1340Asn
ENST00000696291.1:c.*3580G>A (FANCA)	ENSP00000512530.1:n.*3580G>A
ENST00000389301.8:c.4148G>A (FANCA) MANE Select	ENSP00000373952.3:p.Ser1383Asn
ENST00000443381.7:c.*906C>T (ZNF276) MANE Select	ENSP00000415836.2:n.*906C>T
ENST00000289816.9:c.*906C>T (ZNF276)	ENSP00000289816.5:n.*906C>T
ENST00000389301.7:c.4148G>A (FANCA)	ENSP00000373952.3:p.Ser1383Asn
ENST00000561722.5:c.299G>A (FANCA)	ENSP00000456608.1:p.Ser100Asn
ENST00000562424.1:n.419G>A (FANCA)
ENST00000563983.5:n.2739C>T (ZNF276)
ENST00000564475.5:c.478G>A (FANCA)
ENST00000564870.1:c.349G>A (FANCA)
ENST00000567879.5:c.527G>A (FANCA)	ENSP00000457006.1:p.Ser176Asn
ENST00000568369.5:c.4148G>A (FANCA)	ENSP00000456829.1:p.Ser1383Asn
NM_000135.2:c.4148G>A , LRG_495t1:c.4148G>A (FANCA)	NP_000126.2:p.Ser1383Asn
NM_001113525.1:c.*906C>T (ZNF276)	NP_001106997.1:n.*906C>T
NM_001286167.1:c.4148G>A (FANCA)	NP_001273096.1:p.Ser1383Asn
NM_152287.3:c.*906C>T (ZNF276)	NP_689500.2:n.*906C>T
NR_110122.1:n.2923C>T (ZNF276)
NR_110126.1:n.2806C>T (ZNF276)
NR_110128.1:n.2729C>T (ZNF276)
NR_110129.1:n.2818C>T (ZNF276)
XM_005256294.3:c.4148G>A (FANCA)	XP_005256351.1:p.Ser1383Asn
XM_011522945.1:c.4019G>A (FANCA)	XP_011521247.1:p.Ser1340Asn
XM_011522946.1:c.3125G>A (FANCA)	XP_011521248.1:p.Ser1042Asn
XM_011522947.1:c.3125G>A (FANCA)	XP_011521249.1:p.Ser1042Asn
XR_933244.1:n.4115G>A (FANCA)
XR_933245.1:n.4052G>A (FANCA)
NM_000135.3:c.4148G>A (FANCA)	NP_000126.2:p.Ser1383Asn
NM_001286167.2:c.4148G>A (FANCA)	NP_001273096.1:p.Ser1383Asn
XM_005256294.4:c.4148G>A (FANCA)	XP_005256351.1:p.Ser1383Asn
XM_011522945.2:c.4019G>A (FANCA)	XP_011521247.1:p.Ser1340Asn
XM_011522946.3:c.3125G>A (FANCA)	XP_011521248.1:p.Ser1042Asn
XM_011522947.2:c.3125G>A (FANCA)	XP_011521249.1:p.Ser1042Asn
XM_017023044.2:c.4019G>A (FANCA)	XP_016878533.1:p.Ser1340Asn
XM_017023890.1:c.*906C>T (ZNF276)	XP_016879379.1:n.*906C>T
XM_024450189.1:c.3125G>A (FANCA)	XP_024305957.1:p.Ser1042Asn
XR_933244.2:n.4115G>A (FANCA)
XR_933245.2:n.4052G>A (FANCA)
XR_933484.2:n.2917C>T (ZNF276)
NM_000135.4:c.4148G>A (FANCA) MANE Select	NP_000126.2:p.Ser1383Asn
NM_001113525.2:c.*906C>T (ZNF276) MANE Select	NP_001106997.1:n.*906C>T
NM_001286167.3:c.4148G>A (FANCA)	NP_001273096.1:p.Ser1383Asn
NM_152287.4:c.*906C>T (ZNF276)	NP_689500.2:n.*906C>T
NR_110122.2:n.2906C>T (ZNF276)
NR_110126.2:n.2789C>T (ZNF276)
NR_110129.2:n.2823C>T (ZNF276)
NR_110128.2:n.2729C>T (ZNF276)