Canonical Allele Identifier: CA2336412558
Gene: CCDC97 HGNC NCBI
TGFB1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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