Canonical Allele Identifier: CA175437
Gene: CCDC40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80099556A>G , CM000679.2:g.80099556A>G GRCh38
NC_000017.10:g.78073355A>G , CM000679.1:g.78073355A>G GRCh37
NC_000017.9:g.75687950A>G NCBI36
NG_009822.1:g.3001A>G , LRG_673:g.3001A>G
NG_029761.1:g.67925A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.3210A>G MANE Select ENSP00000380679.4:p.Thr1070=
ENST00000397545.8:c.3210A>G ENSP00000380679.4:p.Thr1070=
ENST00000574799.5:n.2747A>G
NM_017950.3:c.3210A>G NP_060420.2:p.Thr1070=
XM_011524963.1:c.3120A>G XP_011523265.1:p.Thr1040=
XM_011524964.1:c.2031A>G XP_011523266.1:p.Thr677=
XM_011524963.3:c.3120A>G XP_011523265.1:p.Thr1040=
XM_011524964.3:c.2031A>G XP_011523266.1:p.Thr677=
XM_024450821.1:c.3120A>G XP_024306589.1:p.Thr1040=
XR_934495.2:n.3328A>G
NM_017950.4:c.3210A>G MANE Select NP_060420.2:p.Thr1070=