Canonical Allele Identifier: CA397483499

Gene: FANCA ZNF276

Linked Data

• gnomAD v4: 16-89738933-C-G
• MyVariant Identifiers: chr16:g.89805341C>G (hg19) ; chr16:g.89738933C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2782G>C (FANCA)	ENSP00000512522.1:n.*2782G>C
ENST00000564475.6:c.4213G>C (FANCA)	ENSP00000454977.2:p.Ala1405Pro
ENST00000567510.2:c.2783G>C (FANCA)	ENSP00000455969.1:n.2783G>C
ENST00000568369.6:c.4213G>C (FANCA)	ENSP00000456829.1:p.Ala1405Pro
ENST00000696274.1:n.4170G>C (FANCA)
ENST00000696275.1:c.*3448G>C (FANCA)	ENSP00000512517.1:n.*3448G>C
ENST00000696286.1:c.*122G>C (FANCA)	ENSP00000512523.1:n.*122G>C
ENST00000696287.1:c.4084G>C (FANCA)	ENSP00000512524.1:p.Ala1362Pro
ENST00000696291.1:c.*3641G>C (FANCA)	ENSP00000512530.1:n.*3641G>C
ENST00000389301.8:c.4209G>C (FANCA) MANE Select	ENSP00000373952.3:p.Leu1403=
ENST00000443381.7:c.*687C>G (ZNF276) MANE Select	ENSP00000415836.2:n.*687C>G
ENST00000289816.9:c.*687C>G (ZNF276)	ENSP00000289816.5:n.*687C>G
ENST00000389301.7:c.4209G>C (FANCA)	ENSP00000373952.3:p.Leu1403=
ENST00000561722.5:c.436-7G>C (FANCA)	ENSP00000456608.1:n.436-7G>C
ENST00000562424.1:n.480G>C (FANCA)
ENST00000563983.5:n.2520C>G (ZNF276)
ENST00000564475.5:c.543G>C (FANCA)
ENST00000564870.1:c.410G>C (FANCA)
ENST00000567879.5:c.583G>C (FANCA)	ENSP00000457006.1:p.Ala195Pro
ENST00000568369.5:c.4213G>C (FANCA)	ENSP00000456829.1:p.Ala1405Pro
NM_000135.2:c.4209G>C , LRG_495t1:c.4209G>C (FANCA)	NP_000126.2:p.Leu1403=
NM_001113525.1:c.*687C>G (ZNF276)	NP_001106997.1:n.*687C>G
NM_001286167.1:c.4213G>C (FANCA)	NP_001273096.1:p.Ala1405Pro
NM_152287.3:c.*687C>G (ZNF276)	NP_689500.2:n.*687C>G
NR_110122.1:n.2704C>G (ZNF276)
NR_110126.1:n.2587C>G (ZNF276)
NR_110128.1:n.2510C>G (ZNF276)
NR_110129.1:n.2599C>G (ZNF276)
XM_005256294.3:c.4213G>C (FANCA)	XP_005256351.1:p.Ala1405Pro
XM_011522945.1:c.4084G>C (FANCA)	XP_011521247.1:p.Ala1362Pro
XM_011522946.1:c.3190G>C (FANCA)	XP_011521248.1:p.Ala1064Pro
XM_011522947.1:c.3190G>C (FANCA)	XP_011521249.1:p.Ala1064Pro
XR_933244.1:n.4176G>C (FANCA)
XR_933245.1:n.4113G>C (FANCA)
NM_000135.3:c.4209G>C (FANCA)	NP_000126.2:p.Leu1403=
NM_001286167.2:c.4213G>C (FANCA)	NP_001273096.1:p.Ala1405Pro
XM_005256294.4:c.4213G>C (FANCA)	XP_005256351.1:p.Ala1405Pro
XM_011522945.2:c.4084G>C (FANCA)	XP_011521247.1:p.Ala1362Pro
XM_011522946.3:c.3190G>C (FANCA)	XP_011521248.1:p.Ala1064Pro
XM_011522947.2:c.3190G>C (FANCA)	XP_011521249.1:p.Ala1064Pro
XM_017023044.2:c.4080G>C (FANCA)	XP_016878533.1:p.Leu1360=
XM_017023890.1:c.*687C>G (ZNF276)	XP_016879379.1:n.*687C>G
XM_024450189.1:c.3190G>C (FANCA)	XP_024305957.1:p.Ala1064Pro
XR_933244.2:n.4176G>C (FANCA)
XR_933245.2:n.4113G>C (FANCA)
XR_933484.2:n.2698C>G (ZNF276)
NM_000135.4:c.4209G>C (FANCA) MANE Select	NP_000126.2:p.Leu1403=
NM_001113525.2:c.*687C>G (ZNF276) MANE Select	NP_001106997.1:n.*687C>G
NM_001286167.3:c.4213G>C (FANCA)	NP_001273096.1:p.Ala1405Pro
NM_152287.4:c.*687C>G (ZNF276)	NP_689500.2:n.*687C>G
NR_110122.2:n.2687C>G (ZNF276)
NR_110126.2:n.2570C>G (ZNF276)
NR_110129.2:n.2604C>G (ZNF276)
NR_110128.2:n.2510C>G (ZNF276)