Canonical Allele Identifier: CA8250687

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 2729026
• ClinVar RCV Id: RCV003524990
• dbSNP Id: rs755883570
• ExAC: 16:89805341 C / T
• gnomAD v2: 16-89805341-C-T
• gnomAD v3: 16-89738933-C-T
• gnomAD v4: 16-89738933-C-T
• MyVariant Identifiers: chr16:g.89805341C>T (hg19) ; chr16:g.89738933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738933C>T , CM000678.2:g.89738933C>T	GRCh38
NC_000016.9:g.89805341C>T , CM000678.1:g.89805341C>T	GRCh37
NC_000016.8:g.88332842C>T	NCBI36
NG_011706.1:g.82725G>A , LRG_495:g.82725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2782G>A (FANCA)	ENSP00000512522.1:n.*2782G>A
ENST00000564475.6:c.4213G>A (FANCA)	ENSP00000454977.2:p.Ala1405Thr
ENST00000567510.2:c.2783G>A (FANCA)	ENSP00000455969.1:n.2783G>A
ENST00000568369.6:c.4213G>A (FANCA)	ENSP00000456829.1:p.Ala1405Thr
ENST00000696274.1:n.4170G>A (FANCA)
ENST00000696275.1:c.*3448G>A (FANCA)	ENSP00000512517.1:n.*3448G>A
ENST00000696286.1:c.*122G>A (FANCA)	ENSP00000512523.1:n.*122G>A
ENST00000696287.1:c.4084G>A (FANCA)	ENSP00000512524.1:p.Ala1362Thr
ENST00000696291.1:c.*3641G>A (FANCA)	ENSP00000512530.1:n.*3641G>A
ENST00000389301.8:c.4209G>A (FANCA) MANE Select	ENSP00000373952.3:p.Leu1403=
ENST00000443381.7:c.*687C>T (ZNF276) MANE Select	ENSP00000415836.2:n.*687C>T
ENST00000289816.9:c.*687C>T (ZNF276)	ENSP00000289816.5:n.*687C>T
ENST00000389301.7:c.4209G>A (FANCA)	ENSP00000373952.3:p.Leu1403=
ENST00000561722.5:c.436-7G>A (FANCA)	ENSP00000456608.1:n.436-7G>A
ENST00000562424.1:n.480G>A (FANCA)
ENST00000563983.5:n.2520C>T (ZNF276)
ENST00000564475.5:c.543G>A (FANCA)
ENST00000564870.1:c.410G>A (FANCA)
ENST00000567879.5:c.583G>A (FANCA)	ENSP00000457006.1:p.Ala195Thr
ENST00000568369.5:c.4213G>A (FANCA)	ENSP00000456829.1:p.Ala1405Thr
NM_000135.2:c.4209G>A , LRG_495t1:c.4209G>A (FANCA)	NP_000126.2:p.Leu1403=
NM_001113525.1:c.*687C>T (ZNF276)	NP_001106997.1:n.*687C>T
NM_001286167.1:c.4213G>A (FANCA)	NP_001273096.1:p.Ala1405Thr
NM_152287.3:c.*687C>T (ZNF276)	NP_689500.2:n.*687C>T
NR_110122.1:n.2704C>T (ZNF276)
NR_110126.1:n.2587C>T (ZNF276)
NR_110128.1:n.2510C>T (ZNF276)
NR_110129.1:n.2599C>T (ZNF276)
XM_005256294.3:c.4213G>A (FANCA)	XP_005256351.1:p.Ala1405Thr
XM_011522945.1:c.4084G>A (FANCA)	XP_011521247.1:p.Ala1362Thr
XM_011522946.1:c.3190G>A (FANCA)	XP_011521248.1:p.Ala1064Thr
XM_011522947.1:c.3190G>A (FANCA)	XP_011521249.1:p.Ala1064Thr
XR_933244.1:n.4176G>A (FANCA)
XR_933245.1:n.4113G>A (FANCA)
NM_000135.3:c.4209G>A (FANCA)	NP_000126.2:p.Leu1403=
NM_001286167.2:c.4213G>A (FANCA)	NP_001273096.1:p.Ala1405Thr
XM_005256294.4:c.4213G>A (FANCA)	XP_005256351.1:p.Ala1405Thr
XM_011522945.2:c.4084G>A (FANCA)	XP_011521247.1:p.Ala1362Thr
XM_011522946.3:c.3190G>A (FANCA)	XP_011521248.1:p.Ala1064Thr
XM_011522947.2:c.3190G>A (FANCA)	XP_011521249.1:p.Ala1064Thr
XM_017023044.2:c.4080G>A (FANCA)	XP_016878533.1:p.Leu1360=
XM_017023890.1:c.*687C>T (ZNF276)	XP_016879379.1:n.*687C>T
XM_024450189.1:c.3190G>A (FANCA)	XP_024305957.1:p.Ala1064Thr
XR_933244.2:n.4176G>A (FANCA)
XR_933245.2:n.4113G>A (FANCA)
XR_933484.2:n.2698C>T (ZNF276)
NM_000135.4:c.4209G>A (FANCA) MANE Select	NP_000126.2:p.Leu1403=
NM_001113525.2:c.*687C>T (ZNF276) MANE Select	NP_001106997.1:n.*687C>T
NM_001286167.3:c.4213G>A (FANCA)	NP_001273096.1:p.Ala1405Thr
NM_152287.4:c.*687C>T (ZNF276)	NP_689500.2:n.*687C>T
NR_110122.2:n.2687C>T (ZNF276)
NR_110126.2:n.2570C>T (ZNF276)
NR_110129.2:n.2604C>T (ZNF276)
NR_110128.2:n.2510C>T (ZNF276)