Canonical Allele Identifier: CA8250805
Community Standard Title: NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739263G>A , CM000678.2:g.89739263G>A GRCh38
NC_000016.9:g.89805671G>A , CM000678.1:g.89805671G>A GRCh37
NC_000016.8:g.88333172G>A NCBI36
NG_011706.1:g.82395C>T , LRG_495:g.82395C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.4037C>T (FANCA) MANE Select NP_000126.2:p.Ala1346Val
NM_001113525.2:c.*1017G>A (ZNF276) MANE Select NP_001106997.1:n.*1017G>A
ENST00000389301.8:c.4037C>T (FANCA) MANE Select ENSP00000373952.3:p.Ala1346Val
ENST00000443381.7:c.*1017G>A (ZNF276) MANE Select ENSP00000415836.2:n.*1017G>A
NM_000135.2:c.4037C>T , LRG_495t1:c.4037C>T (FANCA) NP_000126.2:p.Ala1346Val
NM_000135.3:c.4037C>T (FANCA) NP_000126.2:p.Ala1346Val
NM_001113525.1:c.*1017G>A (ZNF276) NP_001106997.1:n.*1017G>A
NM_001286167.1:c.4037C>T (FANCA) NP_001273096.1:p.Ala1346Val
NM_001286167.2:c.4037C>T (FANCA) NP_001273096.1:p.Ala1346Val
NM_001286167.3:c.4037C>T (FANCA) NP_001273096.1:p.Ala1346Val
NM_152287.3:c.*1017G>A (ZNF276) NP_689500.2:n.*1017G>A
NM_152287.4:c.*1017G>A (ZNF276) NP_689500.2:n.*1017G>A
NR_110122.1:n.3034G>A (ZNF276)
NR_110122.2:n.3017G>A (ZNF276)
NR_110126.1:n.2917G>A (ZNF276)
NR_110126.2:n.2900G>A (ZNF276)
NR_110128.1:n.2840G>A (ZNF276)
NR_110128.2:n.2840G>A (ZNF276)
NR_110129.1:n.2929G>A (ZNF276)
NR_110129.2:n.2934G>A (ZNF276)
ENST00000289816.9:c.*1017G>A (ZNF276) ENSP00000289816.5:n.*1017G>A
ENST00000389301.7:c.4037C>T (FANCA) ENSP00000373952.3:p.Ala1346Val
ENST00000561667.2:c.*2610C>T (FANCA) ENSP00000512522.1:n.*2610C>T
ENST00000561722.5:c.188C>T (FANCA) ENSP00000456608.1:p.Ala63Val
ENST00000562424.1:n.308C>T (FANCA)
ENST00000563983.5:n.2850G>A (ZNF276)
ENST00000564475.5:c.367C>T (FANCA)
ENST00000564475.6:c.4037C>T (FANCA) ENSP00000454977.2:p.Ala1346Val
ENST00000564870.1:c.238C>T (FANCA)
ENST00000567510.2:c.2607C>T (FANCA) ENSP00000455969.1:n.2607C>T
ENST00000567879.5:c.416C>T (FANCA) ENSP00000457006.1:p.Ala139Val
ENST00000568369.5:c.4037C>T (FANCA) ENSP00000456829.1:p.Ala1346Val
ENST00000568369.6:c.4037C>T (FANCA) ENSP00000456829.1:p.Ala1346Val
ENST00000696274.1:n.3998C>T (FANCA)
ENST00000696275.1:c.*3272C>T (FANCA) ENSP00000512517.1:n.*3272C>T
ENST00000696286.1:c.3961C>T (FANCA) ENSP00000512523.1:p.Arg1321Trp
ENST00000696287.1:c.3908C>T (FANCA) ENSP00000512524.1:p.Ala1303Val
ENST00000696291.1:c.*3469C>T (FANCA) ENSP00000512530.1:n.*3469C>T
XM_005256294.3:c.4037C>T (FANCA) XP_005256351.1:p.Ala1346Val
XM_005256294.4:c.4037C>T (FANCA) XP_005256351.1:p.Ala1346Val
XM_011522945.1:c.3908C>T (FANCA) XP_011521247.1:p.Ala1303Val
XM_011522945.2:c.3908C>T (FANCA) XP_011521247.1:p.Ala1303Val
XM_011522946.1:c.3014C>T (FANCA) XP_011521248.1:p.Ala1005Val
XM_011522946.3:c.3014C>T (FANCA) XP_011521248.1:p.Ala1005Val
XM_011522947.1:c.3014C>T (FANCA) XP_011521249.1:p.Ala1005Val
XM_011522947.2:c.3014C>T (FANCA) XP_011521249.1:p.Ala1005Val
XM_017023044.2:c.3908C>T (FANCA) XP_016878533.1:p.Ala1303Val
XM_017023890.1:c.*1017G>A (ZNF276) XP_016879379.1:n.*1017G>A
XM_024450189.1:c.3014C>T (FANCA) XP_024305957.1:p.Ala1005Val
XR_001751866.1:n.3907C>T (FANCA)
XR_933244.1:n.4004C>T (FANCA)
XR_933244.2:n.4004C>T (FANCA)
XR_933245.1:n.3941C>T (FANCA)
XR_933245.2:n.3941C>T (FANCA)
XR_933484.2:n.3028G>A (ZNF276)