Canonical Allele Identifier: CA397484291

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1319518
• ClinVar RCV Id: RCV003237518
• dbSNP Id: rs774175580
• MyVariant Identifiers: chr16:g.89805560C>A (hg19) ; chr16:g.89739152C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2721G>T (FANCA)	ENSP00000512522.1:n.*2721G>T
ENST00000564475.6:c.4148G>T (FANCA)	ENSP00000454977.2:p.Ser1383Ile
ENST00000567510.2:c.2718G>T (FANCA)	ENSP00000455969.1:n.2718G>T
ENST00000568369.6:c.4148G>T (FANCA)	ENSP00000456829.1:p.Ser1383Ile
ENST00000696274.1:n.4109G>T (FANCA)
ENST00000696275.1:c.*3383G>T (FANCA)	ENSP00000512517.1:n.*3383G>T
ENST00000696286.1:c.*61G>T (FANCA)	ENSP00000512523.1:n.*61G>T
ENST00000696287.1:c.4019G>T (FANCA)	ENSP00000512524.1:p.Ser1340Ile
ENST00000696291.1:c.*3580G>T (FANCA)	ENSP00000512530.1:n.*3580G>T
ENST00000389301.8:c.4148G>T (FANCA) MANE Select	ENSP00000373952.3:p.Ser1383Ile
ENST00000443381.7:c.*906C>A (ZNF276) MANE Select	ENSP00000415836.2:n.*906C>A
ENST00000289816.9:c.*906C>A (ZNF276)	ENSP00000289816.5:n.*906C>A
ENST00000389301.7:c.4148G>T (FANCA)	ENSP00000373952.3:p.Ser1383Ile
ENST00000561722.5:c.299G>T (FANCA)	ENSP00000456608.1:p.Ser100Ile
ENST00000562424.1:n.419G>T (FANCA)
ENST00000563983.5:n.2739C>A (ZNF276)
ENST00000564475.5:c.478G>T (FANCA)
ENST00000564870.1:c.349G>T (FANCA)
ENST00000567879.5:c.527G>T (FANCA)	ENSP00000457006.1:p.Ser176Ile
ENST00000568369.5:c.4148G>T (FANCA)	ENSP00000456829.1:p.Ser1383Ile
NM_000135.2:c.4148G>T , LRG_495t1:c.4148G>T (FANCA)	NP_000126.2:p.Ser1383Ile
NM_001113525.1:c.*906C>A (ZNF276)	NP_001106997.1:n.*906C>A
NM_001286167.1:c.4148G>T (FANCA)	NP_001273096.1:p.Ser1383Ile
NM_152287.3:c.*906C>A (ZNF276)	NP_689500.2:n.*906C>A
NR_110122.1:n.2923C>A (ZNF276)
NR_110126.1:n.2806C>A (ZNF276)
NR_110128.1:n.2729C>A (ZNF276)
NR_110129.1:n.2818C>A (ZNF276)
XM_005256294.3:c.4148G>T (FANCA)	XP_005256351.1:p.Ser1383Ile
XM_011522945.1:c.4019G>T (FANCA)	XP_011521247.1:p.Ser1340Ile
XM_011522946.1:c.3125G>T (FANCA)	XP_011521248.1:p.Ser1042Ile
XM_011522947.1:c.3125G>T (FANCA)	XP_011521249.1:p.Ser1042Ile
XR_933244.1:n.4115G>T (FANCA)
XR_933245.1:n.4052G>T (FANCA)
NM_000135.3:c.4148G>T (FANCA)	NP_000126.2:p.Ser1383Ile
NM_001286167.2:c.4148G>T (FANCA)	NP_001273096.1:p.Ser1383Ile
XM_005256294.4:c.4148G>T (FANCA)	XP_005256351.1:p.Ser1383Ile
XM_011522945.2:c.4019G>T (FANCA)	XP_011521247.1:p.Ser1340Ile
XM_011522946.3:c.3125G>T (FANCA)	XP_011521248.1:p.Ser1042Ile
XM_011522947.2:c.3125G>T (FANCA)	XP_011521249.1:p.Ser1042Ile
XM_017023044.2:c.4019G>T (FANCA)	XP_016878533.1:p.Ser1340Ile
XM_017023890.1:c.*906C>A (ZNF276)	XP_016879379.1:n.*906C>A
XM_024450189.1:c.3125G>T (FANCA)	XP_024305957.1:p.Ser1042Ile
XR_933244.2:n.4115G>T (FANCA)
XR_933245.2:n.4052G>T (FANCA)
XR_933484.2:n.2917C>A (ZNF276)
NM_000135.4:c.4148G>T (FANCA) MANE Select	NP_000126.2:p.Ser1383Ile
NM_001113525.2:c.*906C>A (ZNF276) MANE Select	NP_001106997.1:n.*906C>A
NM_001286167.3:c.4148G>T (FANCA)	NP_001273096.1:p.Ser1383Ile
NM_152287.4:c.*906C>A (ZNF276)	NP_689500.2:n.*906C>A
NR_110122.2:n.2906C>A (ZNF276)
NR_110126.2:n.2789C>A (ZNF276)
NR_110129.2:n.2823C>A (ZNF276)
NR_110128.2:n.2729C>A (ZNF276)