Canonical Allele Identifier: CA497379271
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89805574A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739166A>C , CM000678.2:g.89739166A>C GRCh38
NC_000016.9:g.89805574A>C , CM000678.1:g.89805574A>C GRCh37
NC_000016.8:g.88333075A>C NCBI36
NG_011706.1:g.82492T>G , LRG_495:g.82492T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2707T>G (FANCA) ENSP00000512522.1:n.*2707T>G
ENST00000564475.6:c.4134T>G (FANCA) ENSP00000454977.2:p.Pro1378=
ENST00000567510.2:c.2704T>G (FANCA) ENSP00000455969.1:n.2704T>G
ENST00000568369.6:c.4134T>G (FANCA) ENSP00000456829.1:p.Pro1378=
ENST00000696274.1:n.4095T>G (FANCA)
ENST00000696275.1:c.*3369T>G (FANCA) ENSP00000512517.1:n.*3369T>G
ENST00000696286.1:c.*47T>G (FANCA) ENSP00000512523.1:n.*47T>G
ENST00000696287.1:c.4005T>G (FANCA) ENSP00000512524.1:p.Pro1335=
ENST00000696291.1:c.*3566T>G (FANCA) ENSP00000512530.1:n.*3566T>G
ENST00000389301.8:c.4134T>G (FANCA) MANE Select ENSP00000373952.3:p.Pro1378=
ENST00000443381.7:c.*920A>C (ZNF276) MANE Select ENSP00000415836.2:n.*920A>C
ENST00000289816.9:c.*920A>C (ZNF276) ENSP00000289816.5:n.*920A>C
ENST00000389301.7:c.4134T>G (FANCA) ENSP00000373952.3:p.Pro1378=
ENST00000561722.5:c.285T>G (FANCA) ENSP00000456608.1:p.Pro95=
ENST00000562424.1:n.405T>G (FANCA)
ENST00000563983.5:n.2753A>C (ZNF276)
ENST00000564475.5:c.464T>G (FANCA)
ENST00000564870.1:c.335T>G (FANCA)
ENST00000567879.5:c.513T>G (FANCA) ENSP00000457006.1:p.Pro171=
ENST00000568369.5:c.4134T>G (FANCA) ENSP00000456829.1:p.Pro1378=
NM_000135.2:c.4134T>G , LRG_495t1:c.4134T>G (FANCA) NP_000126.2:p.Pro1378=
NM_001113525.1:c.*920A>C (ZNF276) NP_001106997.1:n.*920A>C
NM_001286167.1:c.4134T>G (FANCA) NP_001273096.1:p.Pro1378=
NM_152287.3:c.*920A>C (ZNF276) NP_689500.2:n.*920A>C
NR_110122.1:n.2937A>C (ZNF276)
NR_110126.1:n.2820A>C (ZNF276)
NR_110128.1:n.2743A>C (ZNF276)
NR_110129.1:n.2832A>C (ZNF276)
XM_005256294.3:c.4134T>G (FANCA) XP_005256351.1:p.Pro1378=
XM_011522945.1:c.4005T>G (FANCA) XP_011521247.1:p.Pro1335=
XM_011522946.1:c.3111T>G (FANCA) XP_011521248.1:p.Pro1037=
XM_011522947.1:c.3111T>G (FANCA) XP_011521249.1:p.Pro1037=
XR_933244.1:n.4101T>G (FANCA)
XR_933245.1:n.4038T>G (FANCA)
NM_000135.3:c.4134T>G (FANCA) NP_000126.2:p.Pro1378=
NM_001286167.2:c.4134T>G (FANCA) NP_001273096.1:p.Pro1378=
XM_005256294.4:c.4134T>G (FANCA) XP_005256351.1:p.Pro1378=
XM_011522945.2:c.4005T>G (FANCA) XP_011521247.1:p.Pro1335=
XM_011522946.3:c.3111T>G (FANCA) XP_011521248.1:p.Pro1037=
XM_011522947.2:c.3111T>G (FANCA) XP_011521249.1:p.Pro1037=
XM_017023044.2:c.4005T>G (FANCA) XP_016878533.1:p.Pro1335=
XM_017023890.1:c.*920A>C (ZNF276) XP_016879379.1:n.*920A>C
XM_024450189.1:c.3111T>G (FANCA) XP_024305957.1:p.Pro1037=
XR_933244.2:n.4101T>G (FANCA)
XR_933245.2:n.4038T>G (FANCA)
XR_933484.2:n.2931A>C (ZNF276)
NM_000135.4:c.4134T>G (FANCA) MANE Select NP_000126.2:p.Pro1378=
NM_001113525.2:c.*920A>C (ZNF276) MANE Select NP_001106997.1:n.*920A>C
NM_001286167.3:c.4134T>G (FANCA) NP_001273096.1:p.Pro1378=
NM_152287.4:c.*920A>C (ZNF276) NP_689500.2:n.*920A>C
NR_110122.2:n.2920A>C (ZNF276)
NR_110126.2:n.2803A>C (ZNF276)
NR_110129.2:n.2837A>C (ZNF276)
NR_110128.2:n.2743A>C (ZNF276)