Canonical Allele Identifier: CA397484337

Gene: FANCA ZNF276

Linked Data

• gnomAD v4: 16-89739177-T-C
• MyVariant Identifiers: chr16:g.89805585T>C (hg19) ; chr16:g.89739177T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739177T>C , CM000678.2:g.89739177T>C	GRCh38
NC_000016.9:g.89805585T>C , CM000678.1:g.89805585T>C	GRCh37
NC_000016.8:g.88333086T>C	NCBI36
NG_011706.1:g.82481A>G , LRG_495:g.82481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2696A>G (FANCA)	ENSP00000512522.1:n.*2696A>G
ENST00000564475.6:c.4123A>G (FANCA)	ENSP00000454977.2:p.Thr1375Ala
ENST00000567510.2:c.2693A>G (FANCA)	ENSP00000455969.1:n.2693A>G
ENST00000568369.6:c.4123A>G (FANCA)	ENSP00000456829.1:p.Thr1375Ala
ENST00000696274.1:n.4084A>G (FANCA)
ENST00000696275.1:c.*3358A>G (FANCA)	ENSP00000512517.1:n.*3358A>G
ENST00000696286.1:c.*36A>G (FANCA)	ENSP00000512523.1:n.*36A>G
ENST00000696287.1:c.3994A>G (FANCA)	ENSP00000512524.1:p.Thr1332Ala
ENST00000696291.1:c.*3555A>G (FANCA)	ENSP00000512530.1:n.*3555A>G
ENST00000389301.8:c.4123A>G (FANCA) MANE Select	ENSP00000373952.3:p.Thr1375Ala
ENST00000443381.7:c.*931T>C (ZNF276) MANE Select	ENSP00000415836.2:n.*931T>C
ENST00000289816.9:c.*931T>C (ZNF276)	ENSP00000289816.5:n.*931T>C
ENST00000389301.7:c.4123A>G (FANCA)	ENSP00000373952.3:p.Thr1375Ala
ENST00000561722.5:c.274A>G (FANCA)	ENSP00000456608.1:p.Thr92Ala
ENST00000562424.1:n.394A>G (FANCA)
ENST00000563983.5:n.2764T>C (ZNF276)
ENST00000564475.5:c.453A>G (FANCA)
ENST00000564870.1:c.324A>G (FANCA)
ENST00000567879.5:c.502A>G (FANCA)	ENSP00000457006.1:p.Thr168Ala
ENST00000568369.5:c.4123A>G (FANCA)	ENSP00000456829.1:p.Thr1375Ala
NM_000135.2:c.4123A>G , LRG_495t1:c.4123A>G (FANCA)	NP_000126.2:p.Thr1375Ala
NM_001113525.1:c.*931T>C (ZNF276)	NP_001106997.1:n.*931T>C
NM_001286167.1:c.4123A>G (FANCA)	NP_001273096.1:p.Thr1375Ala
NM_152287.3:c.*931T>C (ZNF276)	NP_689500.2:n.*931T>C
NR_110122.1:n.2948T>C (ZNF276)
NR_110126.1:n.2831T>C (ZNF276)
NR_110128.1:n.2754T>C (ZNF276)
NR_110129.1:n.2843T>C (ZNF276)
XM_005256294.3:c.4123A>G (FANCA)	XP_005256351.1:p.Thr1375Ala
XM_011522945.1:c.3994A>G (FANCA)	XP_011521247.1:p.Thr1332Ala
XM_011522946.1:c.3100A>G (FANCA)	XP_011521248.1:p.Thr1034Ala
XM_011522947.1:c.3100A>G (FANCA)	XP_011521249.1:p.Thr1034Ala
XR_933244.1:n.4090A>G (FANCA)
XR_933245.1:n.4027A>G (FANCA)
NM_000135.3:c.4123A>G (FANCA)	NP_000126.2:p.Thr1375Ala
NM_001286167.2:c.4123A>G (FANCA)	NP_001273096.1:p.Thr1375Ala
XM_005256294.4:c.4123A>G (FANCA)	XP_005256351.1:p.Thr1375Ala
XM_011522945.2:c.3994A>G (FANCA)	XP_011521247.1:p.Thr1332Ala
XM_011522946.3:c.3100A>G (FANCA)	XP_011521248.1:p.Thr1034Ala
XM_011522947.2:c.3100A>G (FANCA)	XP_011521249.1:p.Thr1034Ala
XM_017023044.2:c.3994A>G (FANCA)	XP_016878533.1:p.Thr1332Ala
XM_017023890.1:c.*931T>C (ZNF276)	XP_016879379.1:n.*931T>C
XM_024450189.1:c.3100A>G (FANCA)	XP_024305957.1:p.Thr1034Ala
XR_933244.2:n.4090A>G (FANCA)
XR_933245.2:n.4027A>G (FANCA)
XR_933484.2:n.2942T>C (ZNF276)
NM_000135.4:c.4123A>G (FANCA) MANE Select	NP_000126.2:p.Thr1375Ala
NM_001113525.2:c.*931T>C (ZNF276) MANE Select	NP_001106997.1:n.*931T>C
NM_001286167.3:c.4123A>G (FANCA)	NP_001273096.1:p.Thr1375Ala
NM_152287.4:c.*931T>C (ZNF276)	NP_689500.2:n.*931T>C
NR_110122.2:n.2931T>C (ZNF276)
NR_110126.2:n.2814T>C (ZNF276)
NR_110129.2:n.2848T>C (ZNF276)
NR_110128.2:n.2754T>C (ZNF276)