Canonical Allele Identifier: CA8250701

Gene: FANCA ZNF276

Linked Data

• dbSNP Id: rs577194734
• ExAC: 16:89805382 C / G
• gnomAD v2: 16-89805382-C-G
• gnomAD v3: 16-89738974-C-G
• gnomAD v4: 16-89738974-C-G
• MyVariant Identifiers: chr16:g.89805382C>G (hg19) ; chr16:g.89738974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738974C>G , CM000678.2:g.89738974C>G	GRCh38
NC_000016.9:g.89805382C>G , CM000678.1:g.89805382C>G	GRCh37
NC_000016.8:g.88332883C>G	NCBI36
NG_011706.1:g.82684G>C , LRG_495:g.82684G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2741G>C (FANCA)	ENSP00000512522.1:n.*2741G>C
ENST00000564475.6:c.4172G>C (FANCA)	ENSP00000454977.2:p.Gly1391Ala
ENST00000567510.2:c.2742G>C (FANCA)	ENSP00000455969.1:n.2742G>C
ENST00000568369.6:c.4172G>C (FANCA)	ENSP00000456829.1:p.Gly1391Ala
ENST00000696274.1:n.4129G>C (FANCA)
ENST00000696275.1:c.*3407G>C (FANCA)	ENSP00000512517.1:n.*3407G>C
ENST00000696286.1:c.*81G>C (FANCA)	ENSP00000512523.1:n.*81G>C
ENST00000696287.1:c.4043G>C (FANCA)	ENSP00000512524.1:p.Gly1348Ala
ENST00000696291.1:c.*3600G>C (FANCA)	ENSP00000512530.1:n.*3600G>C
ENST00000389301.8:c.4168G>C (FANCA) MANE Select	ENSP00000373952.3:p.Gly1390Arg
ENST00000443381.7:c.*728C>G (ZNF276) MANE Select	ENSP00000415836.2:n.*728C>G
ENST00000289816.9:c.*728C>G (ZNF276)	ENSP00000289816.5:n.*728C>G
ENST00000389301.7:c.4168G>C (FANCA)	ENSP00000373952.3:p.Gly1390Arg
ENST00000561722.5:c.435+42G>C (FANCA)	ENSP00000456608.1:n.435+42G>C
ENST00000562424.1:n.439G>C (FANCA)
ENST00000563983.5:n.2561C>G (ZNF276)
ENST00000564475.5:c.502G>C (FANCA)
ENST00000564870.1:c.369G>C (FANCA)
ENST00000567879.5:c.542G>C (FANCA)	ENSP00000457006.1:p.Gly181Ala
ENST00000568369.5:c.4172G>C (FANCA)	ENSP00000456829.1:p.Gly1391Ala
NM_000135.2:c.4168G>C , LRG_495t1:c.4168G>C (FANCA)	NP_000126.2:p.Gly1390Arg
NM_001113525.1:c.*728C>G (ZNF276)	NP_001106997.1:n.*728C>G
NM_001286167.1:c.4172G>C (FANCA)	NP_001273096.1:p.Gly1391Ala
NM_152287.3:c.*728C>G (ZNF276)	NP_689500.2:n.*728C>G
NR_110122.1:n.2745C>G (ZNF276)
NR_110126.1:n.2628C>G (ZNF276)
NR_110128.1:n.2551C>G (ZNF276)
NR_110129.1:n.2640C>G (ZNF276)
XM_005256294.3:c.4172G>C (FANCA)	XP_005256351.1:p.Gly1391Ala
XM_011522945.1:c.4043G>C (FANCA)	XP_011521247.1:p.Gly1348Ala
XM_011522946.1:c.3149G>C (FANCA)	XP_011521248.1:p.Gly1050Ala
XM_011522947.1:c.3149G>C (FANCA)	XP_011521249.1:p.Gly1050Ala
XR_933244.1:n.4135G>C (FANCA)
XR_933245.1:n.4072G>C (FANCA)
NM_000135.3:c.4168G>C (FANCA)	NP_000126.2:p.Gly1390Arg
NM_001286167.2:c.4172G>C (FANCA)	NP_001273096.1:p.Gly1391Ala
XM_005256294.4:c.4172G>C (FANCA)	XP_005256351.1:p.Gly1391Ala
XM_011522945.2:c.4043G>C (FANCA)	XP_011521247.1:p.Gly1348Ala
XM_011522946.3:c.3149G>C (FANCA)	XP_011521248.1:p.Gly1050Ala
XM_011522947.2:c.3149G>C (FANCA)	XP_011521249.1:p.Gly1050Ala
XM_017023044.2:c.4039G>C (FANCA)	XP_016878533.1:p.Gly1347Arg
XM_017023890.1:c.*728C>G (ZNF276)	XP_016879379.1:n.*728C>G
XM_024450189.1:c.3149G>C (FANCA)	XP_024305957.1:p.Gly1050Ala
XR_933244.2:n.4135G>C (FANCA)
XR_933245.2:n.4072G>C (FANCA)
XR_933484.2:n.2739C>G (ZNF276)
NM_000135.4:c.4168G>C (FANCA) MANE Select	NP_000126.2:p.Gly1390Arg
NM_001113525.2:c.*728C>G (ZNF276) MANE Select	NP_001106997.1:n.*728C>G
NM_001286167.3:c.4172G>C (FANCA)	NP_001273096.1:p.Gly1391Ala
NM_152287.4:c.*728C>G (ZNF276)	NP_689500.2:n.*728C>G
NR_110122.2:n.2728C>G (ZNF276)
NR_110126.2:n.2611C>G (ZNF276)
NR_110129.2:n.2645C>G (ZNF276)
NR_110128.2:n.2551C>G (ZNF276)