Canonical Allele Identifier: CA627696527
Community Standard Title: NM_017950.4(CCDC40):c.2711+11G>T
Gene: CCDC40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80088113G>T , CM000679.2:g.80088113G>T GRCh38
NC_000017.10:g.78061912G>T , CM000679.1:g.78061912G>T GRCh37
NC_000017.9:g.75676507G>T NCBI36
NG_029761.1:g.56482G>T

Transcript Alleles

HGVS Amino-acid Change
NM_017950.4:c.2711+11G>T MANE Select NP_060420.2:n.2711+11G>T
ENST00000397545.9:c.2711+11G>T MANE Select ENSP00000380679.4:n.2711+11G>T
NM_001243342.1:c.2711+11G>T NP_001230271.1:n.2711+11G>T
NM_001243342.2:c.2711+11G>T NP_001230271.1:n.2711+11G>T
NM_017950.3:c.2711+11G>T NP_060420.2:n.2711+11G>T
ENST00000374877.7:c.2711+11G>T ENSP00000364011.3:n.2711+11G>T
ENST00000397545.8:c.2711+11G>T ENSP00000380679.4:n.2711+11G>T
ENST00000572253.5:n.2962+11G>T
ENST00000573903.1:n.9G>T
ENST00000574799.5:n.2248+11G>T
ENST00000574933.1:n.227G>T
ENST00000575431.1:n.355+11G>T
XM_011524963.1:c.2621+11G>T XP_011523265.1:n.2621+11G>T
XM_011524963.3:c.2621+11G>T XP_011523265.1:n.2621+11G>T
XM_011524964.1:c.1532+11G>T XP_011523266.1:n.1532+11G>T
XM_011524964.3:c.1532+11G>T XP_011523266.1:n.1532+11G>T
XM_024450821.1:c.2621+11G>T XP_024306589.1:n.2621+11G>T
XR_001752550.2:n.2753G>T
XR_934495.1:n.2753G>T
XR_934495.2:n.2753G>T