Canonical Allele Identifier: CA16615435

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 408210
• ClinVar RCV Id: RCV000460272 ; RCV000672332
• dbSNP Id: rs1060501887
• gnomAD v4: 16-89738881-C-T
• MyVariant Identifiers: chr16:g.89805289C>T (hg19) ; chr16:g.89738881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738881C>T , CM000678.2:g.89738881C>T	GRCh38
NC_000016.9:g.89805289C>T , CM000678.1:g.89805289C>T	GRCh37
NC_000016.8:g.88332790C>T	NCBI36
NG_011706.1:g.82777G>A , LRG_495:g.82777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2834G>A (FANCA)	ENSP00000512522.1:n.*2834G>A
ENST00000564475.6:c.4265G>A (FANCA)	ENSP00000454977.2:p.Gly1422Asp
ENST00000567510.2:c.2834+1G>A (FANCA)	ENSP00000455969.1:n.2834+1G>A
ENST00000568369.6:c.4264+1G>A (FANCA)	ENSP00000456829.1:n.4264+1G>A
ENST00000696274.1:n.4222G>A (FANCA)
ENST00000696275.1:c.*3500G>A (FANCA)	ENSP00000512517.1:n.*3500G>A
ENST00000696286.1:c.*173+1G>A (FANCA)	ENSP00000512523.1:n.*173+1G>A
ENST00000696287.1:c.4136G>A (FANCA)	ENSP00000512524.1:p.Gly1379Asp
ENST00000696291.1:c.*3693G>A (FANCA)	ENSP00000512530.1:n.*3693G>A
ENST00000389301.8:c.4260+1G>A (FANCA) MANE Select	ENSP00000373952.3:n.4260+1G>A
ENST00000443381.7:c.*635C>T (ZNF276) MANE Select	ENSP00000415836.2:n.*635C>T
ENST00000289816.9:c.*635C>T (ZNF276)	ENSP00000289816.5:n.*635C>T
ENST00000389301.7:c.4260+1G>A (FANCA)	ENSP00000373952.3:n.4260+1G>A
ENST00000561722.5:c.480+1G>A (FANCA)	ENSP00000456608.1:n.480+1G>A
ENST00000562424.1:n.531+1G>A (FANCA)
ENST00000563983.5:n.2468C>T (ZNF276)
ENST00000564475.5:c.595G>A (FANCA)
ENST00000567879.5:c.634+1G>A (FANCA)	ENSP00000457006.1:n.634+1G>A
ENST00000568369.5:c.4264+1G>A (FANCA)	ENSP00000456829.1:n.4264+1G>A
NM_000135.2:c.4260+1G>A , LRG_495t1:c.4260+1G>A (FANCA)	NP_000126.2:n.4260+1G>A
NM_001113525.1:c.*635C>T (ZNF276)	NP_001106997.1:n.*635C>T
NM_001286167.1:c.4264+1G>A (FANCA)	NP_001273096.1:n.4264+1G>A
NM_152287.3:c.*635C>T (ZNF276)	NP_689500.2:n.*635C>T
NR_110122.1:n.2652C>T (ZNF276)
NR_110126.1:n.2535C>T (ZNF276)
NR_110128.1:n.2458C>T (ZNF276)
NR_110129.1:n.2547C>T (ZNF276)
XM_005256294.3:c.4265G>A (FANCA)	XP_005256351.1:p.Gly1422Asp
XM_011522945.1:c.4136G>A (FANCA)	XP_011521247.1:p.Gly1379Asp
XM_011522946.1:c.3242G>A (FANCA)	XP_011521248.1:p.Gly1081Asp
XM_011522947.1:c.3242G>A (FANCA)	XP_011521249.1:p.Gly1081Asp
XR_933244.1:n.4227+1G>A (FANCA)
XR_933245.1:n.4164+1G>A (FANCA)
NM_000135.3:c.4260+1G>A (FANCA)	NP_000126.2:n.4260+1G>A
NM_001286167.2:c.4264+1G>A (FANCA)	NP_001273096.1:n.4264+1G>A
XM_005256294.4:c.4265G>A (FANCA)	XP_005256351.1:p.Gly1422Asp
XM_011522945.2:c.4136G>A (FANCA)	XP_011521247.1:p.Gly1379Asp
XM_011522946.3:c.3242G>A (FANCA)	XP_011521248.1:p.Gly1081Asp
XM_011522947.2:c.3242G>A (FANCA)	XP_011521249.1:p.Gly1081Asp
XM_017023044.2:c.4131+1G>A (FANCA)	XP_016878533.1:n.4131+1G>A
XM_017023890.1:c.*635C>T (ZNF276)	XP_016879379.1:n.*635C>T
XM_024450189.1:c.3242G>A (FANCA)	XP_024305957.1:p.Gly1081Asp
XR_933244.2:n.4227+1G>A (FANCA)
XR_933245.2:n.4164+1G>A (FANCA)
XR_933484.2:n.2646C>T (ZNF276)
NM_000135.4:c.4260+1G>A (FANCA) MANE Select	NP_000126.2:n.4260+1G>A
NM_001113525.2:c.*635C>T (ZNF276) MANE Select	NP_001106997.1:n.*635C>T
NM_001286167.3:c.4264+1G>A (FANCA)	NP_001273096.1:n.4264+1G>A
NM_152287.4:c.*635C>T (ZNF276)	NP_689500.2:n.*635C>T
NR_110122.2:n.2635C>T (ZNF276)
NR_110126.2:n.2518C>T (ZNF276)
NR_110129.2:n.2552C>T (ZNF276)
NR_110128.2:n.2458C>T (ZNF276)