Canonical Allele Identifier: CA397483705

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 955590
• ClinVar RCV Id: RCV001228261
• dbSNP Id: rs1376923890
• MyVariant Identifiers: chr16:g.89805364T>A (hg19) ; chr16:g.89738956T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738956T>A , CM000678.2:g.89738956T>A	GRCh38
NC_000016.9:g.89805364T>A , CM000678.1:g.89805364T>A	GRCh37
NC_000016.8:g.88332865T>A	NCBI36
NG_011706.1:g.82702A>T , LRG_495:g.82702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2759A>T (FANCA)	ENSP00000512522.1:n.*2759A>T
ENST00000564475.6:c.4190A>T (FANCA)	ENSP00000454977.2:p.Asp1397Val
ENST00000567510.2:c.2760A>T (FANCA)	ENSP00000455969.1:n.2760A>T
ENST00000568369.6:c.4190A>T (FANCA)	ENSP00000456829.1:p.Asp1397Val
ENST00000696274.1:n.4147A>T (FANCA)
ENST00000696275.1:c.*3425A>T (FANCA)	ENSP00000512517.1:n.*3425A>T
ENST00000696286.1:c.*99A>T (FANCA)	ENSP00000512523.1:n.*99A>T
ENST00000696287.1:c.4061A>T (FANCA)	ENSP00000512524.1:p.Asp1354Val
ENST00000696291.1:c.*3618A>T (FANCA)	ENSP00000512530.1:n.*3618A>T
ENST00000389301.8:c.4186A>T (FANCA) MANE Select	ENSP00000373952.3:p.Ile1396Leu
ENST00000443381.7:c.*710T>A (ZNF276) MANE Select	ENSP00000415836.2:n.*710T>A
ENST00000289816.9:c.*710T>A (ZNF276)	ENSP00000289816.5:n.*710T>A
ENST00000389301.7:c.4186A>T (FANCA)	ENSP00000373952.3:p.Ile1396Leu
ENST00000561722.5:c.436-30A>T (FANCA)	ENSP00000456608.1:n.436-30A>T
ENST00000562424.1:n.457A>T (FANCA)
ENST00000563983.5:n.2543T>A (ZNF276)
ENST00000564475.5:c.520A>T (FANCA)
ENST00000564870.1:c.387A>T (FANCA)
ENST00000567879.5:c.560A>T (FANCA)	ENSP00000457006.1:p.Asp187Val
ENST00000568369.5:c.4190A>T (FANCA)	ENSP00000456829.1:p.Asp1397Val
NM_000135.2:c.4186A>T , LRG_495t1:c.4186A>T (FANCA)	NP_000126.2:p.Ile1396Leu
NM_001113525.1:c.*710T>A (ZNF276)	NP_001106997.1:n.*710T>A
NM_001286167.1:c.4190A>T (FANCA)	NP_001273096.1:p.Asp1397Val
NM_152287.3:c.*710T>A (ZNF276)	NP_689500.2:n.*710T>A
NR_110122.1:n.2727T>A (ZNF276)
NR_110126.1:n.2610T>A (ZNF276)
NR_110128.1:n.2533T>A (ZNF276)
NR_110129.1:n.2622T>A (ZNF276)
XM_005256294.3:c.4190A>T (FANCA)	XP_005256351.1:p.Asp1397Val
XM_011522945.1:c.4061A>T (FANCA)	XP_011521247.1:p.Asp1354Val
XM_011522946.1:c.3167A>T (FANCA)	XP_011521248.1:p.Asp1056Val
XM_011522947.1:c.3167A>T (FANCA)	XP_011521249.1:p.Asp1056Val
XR_933244.1:n.4153A>T (FANCA)
XR_933245.1:n.4090A>T (FANCA)
NM_000135.3:c.4186A>T (FANCA)	NP_000126.2:p.Ile1396Leu
NM_001286167.2:c.4190A>T (FANCA)	NP_001273096.1:p.Asp1397Val
XM_005256294.4:c.4190A>T (FANCA)	XP_005256351.1:p.Asp1397Val
XM_011522945.2:c.4061A>T (FANCA)	XP_011521247.1:p.Asp1354Val
XM_011522946.3:c.3167A>T (FANCA)	XP_011521248.1:p.Asp1056Val
XM_011522947.2:c.3167A>T (FANCA)	XP_011521249.1:p.Asp1056Val
XM_017023044.2:c.4057A>T (FANCA)	XP_016878533.1:p.Ile1353Leu
XM_017023890.1:c.*710T>A (ZNF276)	XP_016879379.1:n.*710T>A
XM_024450189.1:c.3167A>T (FANCA)	XP_024305957.1:p.Asp1056Val
XR_933244.2:n.4153A>T (FANCA)
XR_933245.2:n.4090A>T (FANCA)
XR_933484.2:n.2721T>A (ZNF276)
NM_000135.4:c.4186A>T (FANCA) MANE Select	NP_000126.2:p.Ile1396Leu
NM_001113525.2:c.*710T>A (ZNF276) MANE Select	NP_001106997.1:n.*710T>A
NM_001286167.3:c.4190A>T (FANCA)	NP_001273096.1:p.Asp1397Val
NM_152287.4:c.*710T>A (ZNF276)	NP_689500.2:n.*710T>A
NR_110122.2:n.2710T>A (ZNF276)
NR_110126.2:n.2593T>A (ZNF276)
NR_110129.2:n.2627T>A (ZNF276)
NR_110128.2:n.2533T>A (ZNF276)