Canonical Allele Identifier: CA397484737
Community Standard Title: NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly)
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739479T>C , CM000678.2:g.89739479T>C GRCh38
NC_000016.9:g.89805887T>C , CM000678.1:g.89805887T>C GRCh37
NC_000016.8:g.88333388T>C NCBI36
NG_011706.1:g.82179A>G , LRG_495:g.82179A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.4009A>G (FANCA) MANE Select NP_000126.2:p.Ser1337Gly
NM_001113525.2:c.*1233T>C (ZNF276) MANE Select NP_001106997.1:n.*1233T>C
ENST00000389301.8:c.4009A>G (FANCA) MANE Select ENSP00000373952.3:p.Ser1337Gly
ENST00000443381.7:c.*1233T>C (ZNF276) MANE Select ENSP00000415836.2:n.*1233T>C
NM_000135.2:c.4009A>G , LRG_495t1:c.4009A>G (FANCA) NP_000126.2:p.Ser1337Gly
NM_000135.3:c.4009A>G (FANCA) NP_000126.2:p.Ser1337Gly
NM_001113525.1:c.*1233T>C (ZNF276) NP_001106997.1:n.*1233T>C
NM_001286167.1:c.4009A>G (FANCA) NP_001273096.1:p.Ser1337Gly
NM_001286167.2:c.4009A>G (FANCA) NP_001273096.1:p.Ser1337Gly
NM_001286167.3:c.4009A>G (FANCA) NP_001273096.1:p.Ser1337Gly
NM_152287.3:c.*1233T>C (ZNF276) NP_689500.2:n.*1233T>C
NM_152287.4:c.*1233T>C (ZNF276) NP_689500.2:n.*1233T>C
NR_110122.1:n.3250T>C (ZNF276)
NR_110122.2:n.3233T>C (ZNF276)
NR_110126.1:n.3133T>C (ZNF276)
NR_110126.2:n.3116T>C (ZNF276)
NR_110128.1:n.3056T>C (ZNF276)
NR_110128.2:n.3056T>C (ZNF276)
NR_110129.1:n.3145T>C (ZNF276)
NR_110129.2:n.3150T>C (ZNF276)
ENST00000289816.9:c.*1233T>C (ZNF276) ENSP00000289816.5:n.*1233T>C
ENST00000389301.7:c.4009A>G (FANCA) ENSP00000373952.3:p.Ser1337Gly
ENST00000561667.2:c.*2582A>G (FANCA) ENSP00000512522.1:n.*2582A>G
ENST00000561722.5:c.160A>G (FANCA) ENSP00000456608.1:p.Ser54Gly
ENST00000562424.1:n.280A>G (FANCA)
ENST00000563983.5:n.3066T>C (ZNF276)
ENST00000564475.5:c.339A>G (FANCA)
ENST00000564475.6:c.4009A>G (FANCA) ENSP00000454977.2:p.Ser1337Gly
ENST00000564870.1:c.210A>G (FANCA)
ENST00000564969.5:n.734A>G (FANCA)
ENST00000567510.2:c.2579A>G (FANCA) ENSP00000455969.1:n.2579A>G
ENST00000567879.5:c.413-213A>G (FANCA) ENSP00000457006.1:n.413-213A>G
ENST00000568369.5:c.4009A>G (FANCA) ENSP00000456829.1:p.Ser1337Gly
ENST00000568369.6:c.4009A>G (FANCA) ENSP00000456829.1:p.Ser1337Gly
ENST00000568626.1:c.718A>G (FANCA)
ENST00000696274.1:n.3970A>G (FANCA)
ENST00000696275.1:c.*3244A>G (FANCA) ENSP00000512517.1:n.*3244A>G
ENST00000696286.1:c.3935-190A>G (FANCA) ENSP00000512523.1:n.3935-190A>G
ENST00000696287.1:c.3880A>G (FANCA) ENSP00000512524.1:p.Ser1294Gly
ENST00000696291.1:c.*3441A>G (FANCA) ENSP00000512530.1:n.*3441A>G
XM_005256294.3:c.4009A>G (FANCA) XP_005256351.1:p.Ser1337Gly
XM_005256294.4:c.4009A>G (FANCA) XP_005256351.1:p.Ser1337Gly
XM_011522945.1:c.3880A>G (FANCA) XP_011521247.1:p.Ser1294Gly
XM_011522945.2:c.3880A>G (FANCA) XP_011521247.1:p.Ser1294Gly
XM_011522946.1:c.2986A>G (FANCA) XP_011521248.1:p.Ser996Gly
XM_011522946.3:c.2986A>G (FANCA) XP_011521248.1:p.Ser996Gly
XM_011522947.1:c.2986A>G (FANCA) XP_011521249.1:p.Ser996Gly
XM_011522947.2:c.2986A>G (FANCA) XP_011521249.1:p.Ser996Gly
XM_017023044.2:c.3880A>G (FANCA) XP_016878533.1:p.Ser1294Gly
XM_017023890.1:c.*1233T>C (ZNF276) XP_016879379.1:n.*1233T>C
XM_024450189.1:c.2986A>G (FANCA) XP_024305957.1:p.Ser996Gly
XR_001751866.1:n.3879A>G (FANCA)
XR_933244.1:n.3978-190A>G (FANCA)
XR_933244.2:n.3978-190A>G (FANCA)
XR_933245.1:n.3913A>G (FANCA)
XR_933245.2:n.3913A>G (FANCA)
XR_933484.2:n.3244T>C (ZNF276)