Canonical Allele Identifier: CA397483504
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738934A>T , CM000678.2:g.89738934A>T GRCh38
NC_000016.9:g.89805342A>T , CM000678.1:g.89805342A>T GRCh37
NC_000016.8:g.88332843A>T NCBI36
NG_011706.1:g.82724T>A , LRG_495:g.82724T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2781T>A (FANCA) ENSP00000512522.1:n.*2781T>A
ENST00000564475.6:c.4212T>A (FANCA) ENSP00000454977.2:p.Ser1404=
ENST00000567510.2:c.2782T>A (FANCA) ENSP00000455969.1:n.2782T>A
ENST00000568369.6:c.4212T>A (FANCA) ENSP00000456829.1:p.Ser1404=
ENST00000696274.1:n.4169T>A (FANCA)
ENST00000696275.1:c.*3447T>A (FANCA) ENSP00000512517.1:n.*3447T>A
ENST00000696286.1:c.*121T>A (FANCA) ENSP00000512523.1:n.*121T>A
ENST00000696287.1:c.4083T>A (FANCA) ENSP00000512524.1:p.Ser1361=
ENST00000696291.1:c.*3640T>A (FANCA) ENSP00000512530.1:n.*3640T>A
ENST00000389301.8:c.4208T>A (FANCA) MANE Select ENSP00000373952.3:p.Leu1403Gln
ENST00000443381.7:c.*688A>T (ZNF276) MANE Select ENSP00000415836.2:n.*688A>T
ENST00000289816.9:c.*688A>T (ZNF276) ENSP00000289816.5:n.*688A>T
ENST00000389301.7:c.4208T>A (FANCA) ENSP00000373952.3:p.Leu1403Gln
ENST00000561722.5:c.436-8T>A (FANCA) ENSP00000456608.1:n.436-8T>A
ENST00000562424.1:n.479T>A (FANCA)
ENST00000563983.5:n.2521A>T (ZNF276)
ENST00000564475.5:c.542T>A (FANCA)
ENST00000564870.1:c.409T>A (FANCA)
ENST00000567879.5:c.582T>A (FANCA) ENSP00000457006.1:p.Ser194=
ENST00000568369.5:c.4212T>A (FANCA) ENSP00000456829.1:p.Ser1404=
NM_000135.2:c.4208T>A , LRG_495t1:c.4208T>A (FANCA) NP_000126.2:p.Leu1403Gln
NM_001113525.1:c.*688A>T (ZNF276) NP_001106997.1:n.*688A>T
NM_001286167.1:c.4212T>A (FANCA) NP_001273096.1:p.Ser1404=
NM_152287.3:c.*688A>T (ZNF276) NP_689500.2:n.*688A>T
NR_110122.1:n.2705A>T (ZNF276)
NR_110126.1:n.2588A>T (ZNF276)
NR_110128.1:n.2511A>T (ZNF276)
NR_110129.1:n.2600A>T (ZNF276)
XM_005256294.3:c.4212T>A (FANCA) XP_005256351.1:p.Ser1404=
XM_011522945.1:c.4083T>A (FANCA) XP_011521247.1:p.Ser1361=
XM_011522946.1:c.3189T>A (FANCA) XP_011521248.1:p.Ser1063=
XM_011522947.1:c.3189T>A (FANCA) XP_011521249.1:p.Ser1063=
XR_933244.1:n.4175T>A (FANCA)
XR_933245.1:n.4112T>A (FANCA)
NM_000135.3:c.4208T>A (FANCA) NP_000126.2:p.Leu1403Gln
NM_001286167.2:c.4212T>A (FANCA) NP_001273096.1:p.Ser1404=
XM_005256294.4:c.4212T>A (FANCA) XP_005256351.1:p.Ser1404=
XM_011522945.2:c.4083T>A (FANCA) XP_011521247.1:p.Ser1361=
XM_011522946.3:c.3189T>A (FANCA) XP_011521248.1:p.Ser1063=
XM_011522947.2:c.3189T>A (FANCA) XP_011521249.1:p.Ser1063=
XM_017023044.2:c.4079T>A (FANCA) XP_016878533.1:p.Leu1360Gln
XM_017023890.1:c.*688A>T (ZNF276) XP_016879379.1:n.*688A>T
XM_024450189.1:c.3189T>A (FANCA) XP_024305957.1:p.Ser1063=
XR_933244.2:n.4175T>A (FANCA)
XR_933245.2:n.4112T>A (FANCA)
XR_933484.2:n.2699A>T (ZNF276)
NM_000135.4:c.4208T>A (FANCA) MANE Select NP_000126.2:p.Leu1403Gln
NM_001113525.2:c.*688A>T (ZNF276) MANE Select NP_001106997.1:n.*688A>T
NM_001286167.3:c.4212T>A (FANCA) NP_001273096.1:p.Ser1404=
NM_152287.4:c.*688A>T (ZNF276) NP_689500.2:n.*688A>T
NR_110122.2:n.2688A>T (ZNF276)
NR_110126.2:n.2571A>T (ZNF276)
NR_110129.2:n.2605A>T (ZNF276)
NR_110128.2:n.2511A>T (ZNF276)