Canonical Allele Identifier: CA397483578

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1651204
• ClinVar RCV Id: RCV002155708
• dbSNP Id: rs2151710848
• gnomAD v4: 16-89738942-A-G
• MyVariant Identifiers: chr16:g.89805350A>G (hg19) ; chr16:g.89738942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738942A>G , CM000678.2:g.89738942A>G	GRCh38
NC_000016.9:g.89805350A>G , CM000678.1:g.89805350A>G	GRCh37
NC_000016.8:g.88332851A>G	NCBI36
NG_011706.1:g.82716T>C , LRG_495:g.82716T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2773T>C (FANCA)	ENSP00000512522.1:n.*2773T>C
ENST00000564475.6:c.4204T>C (FANCA)	ENSP00000454977.2:p.Ser1402Pro
ENST00000567510.2:c.2774T>C (FANCA)	ENSP00000455969.1:n.2774T>C
ENST00000568369.6:c.4204T>C (FANCA)	ENSP00000456829.1:p.Ser1402Pro
ENST00000696274.1:n.4161T>C (FANCA)
ENST00000696275.1:c.*3439T>C (FANCA)	ENSP00000512517.1:n.*3439T>C
ENST00000696286.1:c.*113T>C (FANCA)	ENSP00000512523.1:n.*113T>C
ENST00000696287.1:c.4075T>C (FANCA)	ENSP00000512524.1:p.Ser1359Pro
ENST00000696291.1:c.*3632T>C (FANCA)	ENSP00000512530.1:n.*3632T>C
ENST00000389301.8:c.4200T>C (FANCA) MANE Select	ENSP00000373952.3:p.Arg1400=
ENST00000443381.7:c.*696A>G (ZNF276) MANE Select	ENSP00000415836.2:n.*696A>G
ENST00000289816.9:c.*696A>G (ZNF276)	ENSP00000289816.5:n.*696A>G
ENST00000389301.7:c.4200T>C (FANCA)	ENSP00000373952.3:p.Arg1400=
ENST00000561722.5:c.436-16T>C (FANCA)	ENSP00000456608.1:n.436-16T>C
ENST00000562424.1:n.471T>C (FANCA)
ENST00000563983.5:n.2529A>G (ZNF276)
ENST00000564475.5:c.534T>C (FANCA)
ENST00000564870.1:c.401T>C (FANCA)
ENST00000567879.5:c.574T>C (FANCA)	ENSP00000457006.1:p.Ser192Pro
ENST00000568369.5:c.4204T>C (FANCA)	ENSP00000456829.1:p.Ser1402Pro
NM_000135.2:c.4200T>C , LRG_495t1:c.4200T>C (FANCA)	NP_000126.2:p.Arg1400=
NM_001113525.1:c.*696A>G (ZNF276)	NP_001106997.1:n.*696A>G
NM_001286167.1:c.4204T>C (FANCA)	NP_001273096.1:p.Ser1402Pro
NM_152287.3:c.*696A>G (ZNF276)	NP_689500.2:n.*696A>G
NR_110122.1:n.2713A>G (ZNF276)
NR_110126.1:n.2596A>G (ZNF276)
NR_110128.1:n.2519A>G (ZNF276)
NR_110129.1:n.2608A>G (ZNF276)
XM_005256294.3:c.4204T>C (FANCA)	XP_005256351.1:p.Ser1402Pro
XM_011522945.1:c.4075T>C (FANCA)	XP_011521247.1:p.Ser1359Pro
XM_011522946.1:c.3181T>C (FANCA)	XP_011521248.1:p.Ser1061Pro
XM_011522947.1:c.3181T>C (FANCA)	XP_011521249.1:p.Ser1061Pro
XR_933244.1:n.4167T>C (FANCA)
XR_933245.1:n.4104T>C (FANCA)
NM_000135.3:c.4200T>C (FANCA)	NP_000126.2:p.Arg1400=
NM_001286167.2:c.4204T>C (FANCA)	NP_001273096.1:p.Ser1402Pro
XM_005256294.4:c.4204T>C (FANCA)	XP_005256351.1:p.Ser1402Pro
XM_011522945.2:c.4075T>C (FANCA)	XP_011521247.1:p.Ser1359Pro
XM_011522946.3:c.3181T>C (FANCA)	XP_011521248.1:p.Ser1061Pro
XM_011522947.2:c.3181T>C (FANCA)	XP_011521249.1:p.Ser1061Pro
XM_017023044.2:c.4071T>C (FANCA)	XP_016878533.1:p.Arg1357=
XM_017023890.1:c.*696A>G (ZNF276)	XP_016879379.1:n.*696A>G
XM_024450189.1:c.3181T>C (FANCA)	XP_024305957.1:p.Ser1061Pro
XR_933244.2:n.4167T>C (FANCA)
XR_933245.2:n.4104T>C (FANCA)
XR_933484.2:n.2707A>G (ZNF276)
NM_000135.4:c.4200T>C (FANCA) MANE Select	NP_000126.2:p.Arg1400=
NM_001113525.2:c.*696A>G (ZNF276) MANE Select	NP_001106997.1:n.*696A>G
NM_001286167.3:c.4204T>C (FANCA)	NP_001273096.1:p.Ser1402Pro
NM_152287.4:c.*696A>G (ZNF276)	NP_689500.2:n.*696A>G
NR_110122.2:n.2696A>G (ZNF276)
NR_110126.2:n.2579A>G (ZNF276)
NR_110129.2:n.2613A>G (ZNF276)
NR_110128.2:n.2519A>G (ZNF276)