Canonical Allele Identifier: CA497379282
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89805583T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739175T>C , CM000678.2:g.89739175T>C GRCh38
NC_000016.9:g.89805583T>C , CM000678.1:g.89805583T>C GRCh37
NC_000016.8:g.88333084T>C NCBI36
NG_011706.1:g.82483A>G , LRG_495:g.82483A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2698A>G (FANCA) ENSP00000512522.1:n.*2698A>G
ENST00000564475.6:c.4125A>G (FANCA) ENSP00000454977.2:p.Thr1375=
ENST00000567510.2:c.2695A>G (FANCA) ENSP00000455969.1:n.2695A>G
ENST00000568369.6:c.4125A>G (FANCA) ENSP00000456829.1:p.Thr1375=
ENST00000696274.1:n.4086A>G (FANCA)
ENST00000696275.1:c.*3360A>G (FANCA) ENSP00000512517.1:n.*3360A>G
ENST00000696286.1:c.*38A>G (FANCA) ENSP00000512523.1:n.*38A>G
ENST00000696287.1:c.3996A>G (FANCA) ENSP00000512524.1:p.Thr1332=
ENST00000696291.1:c.*3557A>G (FANCA) ENSP00000512530.1:n.*3557A>G
ENST00000389301.8:c.4125A>G (FANCA) MANE Select ENSP00000373952.3:p.Thr1375=
ENST00000443381.7:c.*929T>C (ZNF276) MANE Select ENSP00000415836.2:n.*929T>C
ENST00000289816.9:c.*929T>C (ZNF276) ENSP00000289816.5:n.*929T>C
ENST00000389301.7:c.4125A>G (FANCA) ENSP00000373952.3:p.Thr1375=
ENST00000561722.5:c.276A>G (FANCA) ENSP00000456608.1:p.Thr92=
ENST00000562424.1:n.396A>G (FANCA)
ENST00000563983.5:n.2762T>C (ZNF276)
ENST00000564475.5:c.455A>G (FANCA)
ENST00000564870.1:c.326A>G (FANCA)
ENST00000567879.5:c.504A>G (FANCA) ENSP00000457006.1:p.Thr168=
ENST00000568369.5:c.4125A>G (FANCA) ENSP00000456829.1:p.Thr1375=
NM_000135.2:c.4125A>G , LRG_495t1:c.4125A>G (FANCA) NP_000126.2:p.Thr1375=
NM_001113525.1:c.*929T>C (ZNF276) NP_001106997.1:n.*929T>C
NM_001286167.1:c.4125A>G (FANCA) NP_001273096.1:p.Thr1375=
NM_152287.3:c.*929T>C (ZNF276) NP_689500.2:n.*929T>C
NR_110122.1:n.2946T>C (ZNF276)
NR_110126.1:n.2829T>C (ZNF276)
NR_110128.1:n.2752T>C (ZNF276)
NR_110129.1:n.2841T>C (ZNF276)
XM_005256294.3:c.4125A>G (FANCA) XP_005256351.1:p.Thr1375=
XM_011522945.1:c.3996A>G (FANCA) XP_011521247.1:p.Thr1332=
XM_011522946.1:c.3102A>G (FANCA) XP_011521248.1:p.Thr1034=
XM_011522947.1:c.3102A>G (FANCA) XP_011521249.1:p.Thr1034=
XR_933244.1:n.4092A>G (FANCA)
XR_933245.1:n.4029A>G (FANCA)
NM_000135.3:c.4125A>G (FANCA) NP_000126.2:p.Thr1375=
NM_001286167.2:c.4125A>G (FANCA) NP_001273096.1:p.Thr1375=
XM_005256294.4:c.4125A>G (FANCA) XP_005256351.1:p.Thr1375=
XM_011522945.2:c.3996A>G (FANCA) XP_011521247.1:p.Thr1332=
XM_011522946.3:c.3102A>G (FANCA) XP_011521248.1:p.Thr1034=
XM_011522947.2:c.3102A>G (FANCA) XP_011521249.1:p.Thr1034=
XM_017023044.2:c.3996A>G (FANCA) XP_016878533.1:p.Thr1332=
XM_017023890.1:c.*929T>C (ZNF276) XP_016879379.1:n.*929T>C
XM_024450189.1:c.3102A>G (FANCA) XP_024305957.1:p.Thr1034=
XR_933244.2:n.4092A>G (FANCA)
XR_933245.2:n.4029A>G (FANCA)
XR_933484.2:n.2940T>C (ZNF276)
NM_000135.4:c.4125A>G (FANCA) MANE Select NP_000126.2:p.Thr1375=
NM_001113525.2:c.*929T>C (ZNF276) MANE Select NP_001106997.1:n.*929T>C
NM_001286167.3:c.4125A>G (FANCA) NP_001273096.1:p.Thr1375=
NM_152287.4:c.*929T>C (ZNF276) NP_689500.2:n.*929T>C
NR_110122.2:n.2929T>C (ZNF276)
NR_110126.2:n.2812T>C (ZNF276)
NR_110129.2:n.2846T>C (ZNF276)
NR_110128.2:n.2752T>C (ZNF276)