Canonical Allele Identifier: CA8250696

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 997461
• ClinVar RCV Id: RCV001292617 ; RCV001859237
• dbSNP Id: rs199652831
• ExAC: 16:89805373 C / T
• gnomAD v2: 16-89805373-C-T
• gnomAD v3: 16-89738965-C-T
• gnomAD v4: 16-89738965-C-T
• MyVariant Identifiers: chr16:g.89805373C>T (hg19) ; chr16:g.89738965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738965C>T , CM000678.2:g.89738965C>T	GRCh38
NC_000016.9:g.89805373C>T , CM000678.1:g.89805373C>T	GRCh37
NC_000016.8:g.88332874C>T	NCBI36
NG_011706.1:g.82693G>A , LRG_495:g.82693G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2750G>A (FANCA)	ENSP00000512522.1:n.*2750G>A
ENST00000564475.6:c.4181G>A (FANCA)	ENSP00000454977.2:p.Arg1394His
ENST00000567510.2:c.2751G>A (FANCA)	ENSP00000455969.1:n.2751G>A
ENST00000568369.6:c.4181G>A (FANCA)	ENSP00000456829.1:p.Arg1394His
ENST00000696274.1:n.4138G>A (FANCA)
ENST00000696275.1:c.*3416G>A (FANCA)	ENSP00000512517.1:n.*3416G>A
ENST00000696286.1:c.*90G>A (FANCA)	ENSP00000512523.1:n.*90G>A
ENST00000696287.1:c.4052G>A (FANCA)	ENSP00000512524.1:p.Arg1351His
ENST00000696291.1:c.*3609G>A (FANCA)	ENSP00000512530.1:n.*3609G>A
ENST00000389301.8:c.4177G>A (FANCA) MANE Select	ENSP00000373952.3:p.Val1393Met
ENST00000443381.7:c.*719C>T (ZNF276) MANE Select	ENSP00000415836.2:n.*719C>T
ENST00000289816.9:c.*719C>T (ZNF276)	ENSP00000289816.5:n.*719C>T
ENST00000389301.7:c.4177G>A (FANCA)	ENSP00000373952.3:p.Val1393Met
ENST00000561722.5:c.436-39G>A (FANCA)	ENSP00000456608.1:n.436-39G>A
ENST00000562424.1:n.448G>A (FANCA)
ENST00000563983.5:n.2552C>T (ZNF276)
ENST00000564475.5:c.511G>A (FANCA)
ENST00000564870.1:c.378G>A (FANCA)
ENST00000567879.5:c.551G>A (FANCA)	ENSP00000457006.1:p.Arg184His
ENST00000568369.5:c.4181G>A (FANCA)	ENSP00000456829.1:p.Arg1394His
NM_000135.2:c.4177G>A , LRG_495t1:c.4177G>A (FANCA)	NP_000126.2:p.Val1393Met
NM_001113525.1:c.*719C>T (ZNF276)	NP_001106997.1:n.*719C>T
NM_001286167.1:c.4181G>A (FANCA)	NP_001273096.1:p.Arg1394His
NM_152287.3:c.*719C>T (ZNF276)	NP_689500.2:n.*719C>T
NR_110122.1:n.2736C>T (ZNF276)
NR_110126.1:n.2619C>T (ZNF276)
NR_110128.1:n.2542C>T (ZNF276)
NR_110129.1:n.2631C>T (ZNF276)
XM_005256294.3:c.4181G>A (FANCA)	XP_005256351.1:p.Arg1394His
XM_011522945.1:c.4052G>A (FANCA)	XP_011521247.1:p.Arg1351His
XM_011522946.1:c.3158G>A (FANCA)	XP_011521248.1:p.Arg1053His
XM_011522947.1:c.3158G>A (FANCA)	XP_011521249.1:p.Arg1053His
XR_933244.1:n.4144G>A (FANCA)
XR_933245.1:n.4081G>A (FANCA)
NM_000135.3:c.4177G>A (FANCA)	NP_000126.2:p.Val1393Met
NM_001286167.2:c.4181G>A (FANCA)	NP_001273096.1:p.Arg1394His
XM_005256294.4:c.4181G>A (FANCA)	XP_005256351.1:p.Arg1394His
XM_011522945.2:c.4052G>A (FANCA)	XP_011521247.1:p.Arg1351His
XM_011522946.3:c.3158G>A (FANCA)	XP_011521248.1:p.Arg1053His
XM_011522947.2:c.3158G>A (FANCA)	XP_011521249.1:p.Arg1053His
XM_017023044.2:c.4048G>A (FANCA)	XP_016878533.1:p.Val1350Met
XM_017023890.1:c.*719C>T (ZNF276)	XP_016879379.1:n.*719C>T
XM_024450189.1:c.3158G>A (FANCA)	XP_024305957.1:p.Arg1053His
XR_933244.2:n.4144G>A (FANCA)
XR_933245.2:n.4081G>A (FANCA)
XR_933484.2:n.2730C>T (ZNF276)
NM_000135.4:c.4177G>A (FANCA) MANE Select	NP_000126.2:p.Val1393Met
NM_001113525.2:c.*719C>T (ZNF276) MANE Select	NP_001106997.1:n.*719C>T
NM_001286167.3:c.4181G>A (FANCA)	NP_001273096.1:p.Arg1394His
NM_152287.4:c.*719C>T (ZNF276)	NP_689500.2:n.*719C>T
NR_110122.2:n.2719C>T (ZNF276)
NR_110126.2:n.2602C>T (ZNF276)
NR_110129.2:n.2636C>T (ZNF276)
NR_110128.2:n.2542C>T (ZNF276)