Canonical Allele Identifier: CA8250664
Community Standard Title: NM_000135.4(FANCA):c.4260+6G>T
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89738876C>A , CM000678.2:g.89738876C>A GRCh38
NC_000016.9:g.89805284C>A , CM000678.1:g.89805284C>A GRCh37
NC_000016.8:g.88332785C>A NCBI36
NG_011706.1:g.82782G>T , LRG_495:g.82782G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.4260+6G>T (FANCA) MANE Select NP_000126.2:n.4260+6G>T
NM_001113525.2:c.*630C>A (ZNF276) MANE Select NP_001106997.1:n.*630C>A
ENST00000389301.8:c.4260+6G>T (FANCA) MANE Select ENSP00000373952.3:n.4260+6G>T
ENST00000443381.7:c.*630C>A (ZNF276) MANE Select ENSP00000415836.2:n.*630C>A
NM_000135.2:c.4260+6G>T , LRG_495t1:c.4260+6G>T (FANCA) NP_000126.2:n.4260+6G>T
NM_000135.3:c.4260+6G>T (FANCA) NP_000126.2:n.4260+6G>T
NM_001113525.1:c.*630C>A (ZNF276) NP_001106997.1:n.*630C>A
NM_001286167.1:c.4264+6G>T (FANCA) NP_001273096.1:n.4264+6G>T
NM_001286167.2:c.4264+6G>T (FANCA) NP_001273096.1:n.4264+6G>T
NM_001286167.3:c.4264+6G>T (FANCA) NP_001273096.1:n.4264+6G>T
NM_152287.3:c.*630C>A (ZNF276) NP_689500.2:n.*630C>A
NM_152287.4:c.*630C>A (ZNF276) NP_689500.2:n.*630C>A
NR_110122.1:n.2647C>A (ZNF276)
NR_110122.2:n.2630C>A (ZNF276)
NR_110126.1:n.2530C>A (ZNF276)
NR_110126.2:n.2513C>A (ZNF276)
NR_110128.1:n.2453C>A (ZNF276)
NR_110128.2:n.2453C>A (ZNF276)
NR_110129.1:n.2542C>A (ZNF276)
NR_110129.2:n.2547C>A (ZNF276)
ENST00000289816.9:c.*630C>A (ZNF276) ENSP00000289816.5:n.*630C>A
ENST00000389301.7:c.4260+6G>T (FANCA) ENSP00000373952.3:n.4260+6G>T
ENST00000561667.2:c.*2839G>T (FANCA) ENSP00000512522.1:n.*2839G>T
ENST00000561722.5:c.480+6G>T (FANCA) ENSP00000456608.1:n.480+6G>T
ENST00000562424.1:n.531+6G>T (FANCA)
ENST00000563983.5:n.2463C>A (ZNF276)
ENST00000564475.5:c.600G>T (FANCA)
ENST00000564475.6:c.4270G>T (FANCA) ENSP00000454977.2:p.Val1424Phe
ENST00000567510.2:c.2834+6G>T (FANCA) ENSP00000455969.1:n.2834+6G>T
ENST00000567879.5:c.634+6G>T (FANCA) ENSP00000457006.1:n.634+6G>T
ENST00000568369.5:c.4264+6G>T (FANCA) ENSP00000456829.1:n.4264+6G>T
ENST00000568369.6:c.4264+6G>T (FANCA) ENSP00000456829.1:n.4264+6G>T
ENST00000696274.1:n.4227G>T (FANCA)
ENST00000696275.1:c.*3505G>T (FANCA) ENSP00000512517.1:n.*3505G>T
ENST00000696286.1:c.*173+6G>T (FANCA) ENSP00000512523.1:n.*173+6G>T
ENST00000696287.1:c.4141G>T (FANCA) ENSP00000512524.1:p.Val1381Phe
ENST00000696291.1:c.*3698G>T (FANCA) ENSP00000512530.1:n.*3698G>T
XM_005256294.3:c.4270G>T (FANCA) XP_005256351.1:p.Val1424Phe
XM_005256294.4:c.4270G>T (FANCA) XP_005256351.1:p.Val1424Phe
XM_011522945.1:c.4141G>T (FANCA) XP_011521247.1:p.Val1381Phe
XM_011522945.2:c.4141G>T (FANCA) XP_011521247.1:p.Val1381Phe
XM_011522946.1:c.3247G>T (FANCA) XP_011521248.1:p.Val1083Phe
XM_011522946.3:c.3247G>T (FANCA) XP_011521248.1:p.Val1083Phe
XM_011522947.1:c.3247G>T (FANCA) XP_011521249.1:p.Val1083Phe
XM_011522947.2:c.3247G>T (FANCA) XP_011521249.1:p.Val1083Phe
XM_017023044.2:c.4131+6G>T (FANCA) XP_016878533.1:n.4131+6G>T
XM_017023890.1:c.*630C>A (ZNF276) XP_016879379.1:n.*630C>A
XM_024450189.1:c.3247G>T (FANCA) XP_024305957.1:p.Val1083Phe
XR_933244.1:n.4227+6G>T (FANCA)
XR_933244.2:n.4227+6G>T (FANCA)
XR_933245.1:n.4164+6G>T (FANCA)
XR_933245.2:n.4164+6G>T (FANCA)
XR_933484.2:n.2641C>A (ZNF276)