Canonical Allele Identifier: CA286614605
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

ClinVar Variation Id: 2044658
ClinVar RCV Id: RCV002903849
dbSNP Id: rs372493612

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739165G>T , CM000678.2:g.89739165G>T GRCh38
NC_000016.9:g.89805573G>T , CM000678.1:g.89805573G>T GRCh37
NC_000016.8:g.88333074G>T NCBI36
NG_011706.1:g.82493C>A , LRG_495:g.82493C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2708C>A (FANCA) ENSP00000512522.1:n.*2708C>A
ENST00000564475.6:c.4135C>A (FANCA) ENSP00000454977.2:p.Pro1379Thr
ENST00000567510.2:c.2705C>A (FANCA) ENSP00000455969.1:n.2705C>A
ENST00000568369.6:c.4135C>A (FANCA) ENSP00000456829.1:p.Pro1379Thr
ENST00000696274.1:n.4096C>A (FANCA)
ENST00000696275.1:c.*3370C>A (FANCA) ENSP00000512517.1:n.*3370C>A
ENST00000696286.1:c.*48C>A (FANCA) ENSP00000512523.1:n.*48C>A
ENST00000696287.1:c.4006C>A (FANCA) ENSP00000512524.1:p.Pro1336Thr
ENST00000696291.1:c.*3567C>A (FANCA) ENSP00000512530.1:n.*3567C>A
ENST00000389301.8:c.4135C>A (FANCA) MANE Select ENSP00000373952.3:p.Pro1379Thr
ENST00000443381.7:c.*919G>T (ZNF276) MANE Select ENSP00000415836.2:n.*919G>T
ENST00000289816.9:c.*919G>T (ZNF276) ENSP00000289816.5:n.*919G>T
ENST00000389301.7:c.4135C>A (FANCA) ENSP00000373952.3:p.Pro1379Thr
ENST00000561722.5:c.286C>A (FANCA) ENSP00000456608.1:p.Pro96Thr
ENST00000562424.1:n.406C>A (FANCA)
ENST00000563983.5:n.2752G>T (ZNF276)
ENST00000564475.5:c.465C>A (FANCA)
ENST00000564870.1:c.336C>A (FANCA)
ENST00000567879.5:c.514C>A (FANCA) ENSP00000457006.1:p.Pro172Thr
ENST00000568369.5:c.4135C>A (FANCA) ENSP00000456829.1:p.Pro1379Thr
NM_000135.2:c.4135C>A , LRG_495t1:c.4135C>A (FANCA) NP_000126.2:p.Pro1379Thr
NM_001113525.1:c.*919G>T (ZNF276) NP_001106997.1:n.*919G>T
NM_001286167.1:c.4135C>A (FANCA) NP_001273096.1:p.Pro1379Thr
NM_152287.3:c.*919G>T (ZNF276) NP_689500.2:n.*919G>T
NR_110122.1:n.2936G>T (ZNF276)
NR_110126.1:n.2819G>T (ZNF276)
NR_110128.1:n.2742G>T (ZNF276)
NR_110129.1:n.2831G>T (ZNF276)
XM_005256294.3:c.4135C>A (FANCA) XP_005256351.1:p.Pro1379Thr
XM_011522945.1:c.4006C>A (FANCA) XP_011521247.1:p.Pro1336Thr
XM_011522946.1:c.3112C>A (FANCA) XP_011521248.1:p.Pro1038Thr
XM_011522947.1:c.3112C>A (FANCA) XP_011521249.1:p.Pro1038Thr
XR_933244.1:n.4102C>A (FANCA)
XR_933245.1:n.4039C>A (FANCA)
NM_000135.3:c.4135C>A (FANCA) NP_000126.2:p.Pro1379Thr
NM_001286167.2:c.4135C>A (FANCA) NP_001273096.1:p.Pro1379Thr
XM_005256294.4:c.4135C>A (FANCA) XP_005256351.1:p.Pro1379Thr
XM_011522945.2:c.4006C>A (FANCA) XP_011521247.1:p.Pro1336Thr
XM_011522946.3:c.3112C>A (FANCA) XP_011521248.1:p.Pro1038Thr
XM_011522947.2:c.3112C>A (FANCA) XP_011521249.1:p.Pro1038Thr
XM_017023044.2:c.4006C>A (FANCA) XP_016878533.1:p.Pro1336Thr
XM_017023890.1:c.*919G>T (ZNF276) XP_016879379.1:n.*919G>T
XM_024450189.1:c.3112C>A (FANCA) XP_024305957.1:p.Pro1038Thr
XR_933244.2:n.4102C>A (FANCA)
XR_933245.2:n.4039C>A (FANCA)
XR_933484.2:n.2930G>T (ZNF276)
NM_000135.4:c.4135C>A (FANCA) MANE Select NP_000126.2:p.Pro1379Thr
NM_001113525.2:c.*919G>T (ZNF276) MANE Select NP_001106997.1:n.*919G>T
NM_001286167.3:c.4135C>A (FANCA) NP_001273096.1:p.Pro1379Thr
NM_152287.4:c.*919G>T (ZNF276) NP_689500.2:n.*919G>T
NR_110122.2:n.2919G>T (ZNF276)
NR_110126.2:n.2802G>T (ZNF276)
NR_110129.2:n.2836G>T (ZNF276)
NR_110128.2:n.2742G>T (ZNF276)