Canonical Allele Identifier: CA1933134
Community Standard Title: NM_004460.5(FAP):c.2124A>G (p.Gln708=)
Gene: FAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162172868T>C , CM000664.2:g.162172868T>C GRCh38
NC_000002.11:g.163029378T>C , CM000664.1:g.163029378T>C GRCh37
NC_000002.10:g.162737624T>C NCBI36
NG_027991.1:g.75668A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004460.5:c.2124A>G MANE Select NP_004451.2:p.Gln708=
ENST00000188790.9:c.2124A>G MANE Select ENSP00000188790.4:p.Gln708=
NM_001291807.1:c.2049A>G NP_001278736.1:p.Gln683=
NM_001291807.2:c.2049A>G NP_001278736.1:p.Gln683=
NM_001291807.3:c.2049A>G NP_001278736.1:p.Gln683=
NM_004460.3:c.2124A>G NP_004451.2:p.Gln708=
NM_004460.4:c.2124A>G NP_004451.2:p.Gln708=
ENST00000188790.8:c.2124A>G ENSP00000188790.4:p.Gln708=
ENST00000422436.5:c.1083A>G ENSP00000417028.1:n.1083A>G
ENST00000443424.5:c.2049A>G ENSP00000411391.1:p.Gln683=
ENST00000461506.1:n.425A>G
ENST00000462608.5:c.243A>G
ENST00000480044.5:n.1958A>G
ENST00000627638.2:c.2121A>G ENSP00000485844.1:p.Gln707=
XM_011510796.1:c.2094A>G XP_011509098.1:p.Gln698=
XM_011510796.3:c.2094A>G XP_011509098.1:p.Gln698=