Canonical Allele Identifier: CA2336412557
Community Standard Title: NM_052848.3(CCDC97):c.*1986T=
Gene: CCDC97 HGNC NCBI
TGFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41324701T= , CM000681.2:g.41324701T= GRCh38
NC_000019.9:g.41830606T= , CM000681.1:g.41830606T= GRCh37
NC_000019.8:g.46522446T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_052848.3:c.*1986T= (CCDC97) MANE Select NP_443080.1:n.*1986T=
ENST00000269967.4:c.*1986T= (CCDC97) MANE Select ENSP00000269967.2:n.*1986T=
NM_001346100.1:c.*1986T= (CCDC97) NP_001333029.1:n.*1986T=
NM_001346100.2:c.*1986T= (CCDC97) NP_001333029.1:n.*1986T=
NM_052848.1:c.*1986T= (CCDC97) NP_443080.1:n.*1986T=
NM_052848.2:c.*1986T= (CCDC97) NP_443080.1:n.*1986T=
ENST00000269967.3:c.*1986T= (CCDC97) ENSP00000269967.2:n.*1986T=
ENST00000598758.5:c.302+7427A= (TGFB1)
XM_005259377.3:c.*1986T= (CCDC97) XP_005259434.1:n.*1986T=