Canonical Allele Identifier: CA15941836
Gene: CCDC97 HGNC NCBI
TGFB1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41324701T>C
GRCh37 chr19:g.41830606T>C
gnomAD v2:
19:41830606 T / C
gnomAD v3:
19:41324701 T / C
gnomAD v4:
chr19-41324701-T-C
Joint Max Group AF 0.33421455 (EAS)
Genomes Max Group AF 0.33421455 (EAS)
Exomes Max Group AF 0.03407033 (NFE)
dbSNP:
6957
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Genomic Alleles

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

Transcript Alleles

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