Canonical Allele Identifier: CA8250695

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1562518
• ClinVar RCV Id: RCV002204843
• dbSNP Id: rs780156946
• ExAC: 16:89805367 G / A
• gnomAD v2: 16-89805367-G-A
• gnomAD v4: 16-89738959-G-A
• MyVariant Identifiers: chr16:g.89805367G>A (hg19) ; chr16:g.89738959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738959G>A , CM000678.2:g.89738959G>A	GRCh38
NC_000016.9:g.89805367G>A , CM000678.1:g.89805367G>A	GRCh37
NC_000016.8:g.88332868G>A	NCBI36
NG_011706.1:g.82699C>T , LRG_495:g.82699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2756C>T (FANCA)	ENSP00000512522.1:n.*2756C>T
ENST00000564475.6:c.4187C>T (FANCA)	ENSP00000454977.2:p.Thr1396Ile
ENST00000567510.2:c.2757C>T (FANCA)	ENSP00000455969.1:n.2757C>T
ENST00000568369.6:c.4187C>T (FANCA)	ENSP00000456829.1:p.Thr1396Ile
ENST00000696274.1:n.4144C>T (FANCA)
ENST00000696275.1:c.*3422C>T (FANCA)	ENSP00000512517.1:n.*3422C>T
ENST00000696286.1:c.*96C>T (FANCA)	ENSP00000512523.1:n.*96C>T
ENST00000696287.1:c.4058C>T (FANCA)	ENSP00000512524.1:p.Thr1353Ile
ENST00000696291.1:c.*3615C>T (FANCA)	ENSP00000512530.1:n.*3615C>T
ENST00000389301.8:c.4183C>T (FANCA) MANE Select	ENSP00000373952.3:p.Leu1395=
ENST00000443381.7:c.*713G>A (ZNF276) MANE Select	ENSP00000415836.2:n.*713G>A
ENST00000289816.9:c.*713G>A (ZNF276)	ENSP00000289816.5:n.*713G>A
ENST00000389301.7:c.4183C>T (FANCA)	ENSP00000373952.3:p.Leu1395=
ENST00000561722.5:c.436-33C>T (FANCA)	ENSP00000456608.1:n.436-33C>T
ENST00000562424.1:n.454C>T (FANCA)
ENST00000563983.5:n.2546G>A (ZNF276)
ENST00000564475.5:c.517C>T (FANCA)
ENST00000564870.1:c.384C>T (FANCA)
ENST00000567879.5:c.557C>T (FANCA)	ENSP00000457006.1:p.Thr186Ile
ENST00000568369.5:c.4187C>T (FANCA)	ENSP00000456829.1:p.Thr1396Ile
NM_000135.2:c.4183C>T , LRG_495t1:c.4183C>T (FANCA)	NP_000126.2:p.Leu1395=
NM_001113525.1:c.*713G>A (ZNF276)	NP_001106997.1:n.*713G>A
NM_001286167.1:c.4187C>T (FANCA)	NP_001273096.1:p.Thr1396Ile
NM_152287.3:c.*713G>A (ZNF276)	NP_689500.2:n.*713G>A
NR_110122.1:n.2730G>A (ZNF276)
NR_110126.1:n.2613G>A (ZNF276)
NR_110128.1:n.2536G>A (ZNF276)
NR_110129.1:n.2625G>A (ZNF276)
XM_005256294.3:c.4187C>T (FANCA)	XP_005256351.1:p.Thr1396Ile
XM_011522945.1:c.4058C>T (FANCA)	XP_011521247.1:p.Thr1353Ile
XM_011522946.1:c.3164C>T (FANCA)	XP_011521248.1:p.Thr1055Ile
XM_011522947.1:c.3164C>T (FANCA)	XP_011521249.1:p.Thr1055Ile
XR_933244.1:n.4150C>T (FANCA)
XR_933245.1:n.4087C>T (FANCA)
NM_000135.3:c.4183C>T (FANCA)	NP_000126.2:p.Leu1395=
NM_001286167.2:c.4187C>T (FANCA)	NP_001273096.1:p.Thr1396Ile
XM_005256294.4:c.4187C>T (FANCA)	XP_005256351.1:p.Thr1396Ile
XM_011522945.2:c.4058C>T (FANCA)	XP_011521247.1:p.Thr1353Ile
XM_011522946.3:c.3164C>T (FANCA)	XP_011521248.1:p.Thr1055Ile
XM_011522947.2:c.3164C>T (FANCA)	XP_011521249.1:p.Thr1055Ile
XM_017023044.2:c.4054C>T (FANCA)	XP_016878533.1:p.Leu1352=
XM_017023890.1:c.*713G>A (ZNF276)	XP_016879379.1:n.*713G>A
XM_024450189.1:c.3164C>T (FANCA)	XP_024305957.1:p.Thr1055Ile
XR_933244.2:n.4150C>T (FANCA)
XR_933245.2:n.4087C>T (FANCA)
XR_933484.2:n.2724G>A (ZNF276)
NM_000135.4:c.4183C>T (FANCA) MANE Select	NP_000126.2:p.Leu1395=
NM_001113525.2:c.*713G>A (ZNF276) MANE Select	NP_001106997.1:n.*713G>A
NM_001286167.3:c.4187C>T (FANCA)	NP_001273096.1:p.Thr1396Ile
NM_152287.4:c.*713G>A (ZNF276)	NP_689500.2:n.*713G>A
NR_110122.2:n.2713G>A (ZNF276)
NR_110126.2:n.2596G>A (ZNF276)
NR_110129.2:n.2630G>A (ZNF276)
NR_110128.2:n.2536G>A (ZNF276)