Canonical Allele Identifier: CA401356832
Community Standard Title: NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)
Gene: CCDC40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80097398C>T , CM000679.2:g.80097398C>T GRCh38
NC_000017.10:g.78071197C>T , CM000679.1:g.78071197C>T GRCh37
NC_000017.9:g.75685792C>T NCBI36
NG_009822.1:g.843C>T , LRG_673:g.843C>T
NG_029761.1:g.65767C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017950.4:c.3175C>T MANE Select NP_060420.2:p.Arg1059Ter
ENST00000397545.9:c.3175C>T MANE Select ENSP00000380679.4:p.Arg1059Ter
NM_017950.3:c.3175C>T NP_060420.2:p.Arg1059Ter
ENST00000397545.8:c.3175C>T ENSP00000380679.4:p.Arg1059Ter
ENST00000572253.5:n.3426C>T
ENST00000574799.5:n.2712C>T
XM_011524963.1:c.3085C>T XP_011523265.1:p.Arg1029Ter
XM_011524963.3:c.3085C>T XP_011523265.1:p.Arg1029Ter
XM_011524964.1:c.1996C>T XP_011523266.1:p.Arg666Ter
XM_011524964.3:c.1996C>T XP_011523266.1:p.Arg666Ter
XM_024450821.1:c.3085C>T XP_024306589.1:p.Arg1029Ter
XR_934495.2:n.3293C>T