Canonical Allele Identifier: CA14741502
Gene: CCDC97 HGNC NCBI
TGFB1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41323701G>A
GRCh37 chr19:g.41829606G>A
gnomAD v2:
19:41829606 G / A
gnomAD v3:
19:41323701 G / A
gnomAD v4:
chr19-41323701-G-A
Joint Max Group AF 0.2530638 (EAS)
Genomes Max Group AF 0.25973762 (EAS)
Exomes Max Group AF 0.10963723 (NFE)
dbSNP:
2241718
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41323701G>A , CM000681.2:g.41323701G>A GRCh38
NC_000019.9:g.41829606G>A , CM000681.1:g.41829606G>A GRCh37
NC_000019.8:g.46521446G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269967.4:c.*986G>A (CCDC97) MANE Select ENSP00000269967.2:n.*986G>A
ENST00000269967.3:c.*986G>A (CCDC97) ENSP00000269967.2:n.*986G>A
ENST00000598758.5:c.302+8427C>T (TGFB1)
NM_052848.1:c.*986G>A (CCDC97) NP_443080.1:n.*986G>A
XM_005259377.3:c.*986G>A (CCDC97) XP_005259434.1:n.*986G>A
NM_001346100.1:c.*986G>A (CCDC97) NP_001333029.1:n.*986G>A
NM_052848.2:c.*986G>A (CCDC97) NP_443080.1:n.*986G>A
NM_052848.3:c.*986G>A (CCDC97) MANE Select NP_443080.1:n.*986G>A
NM_001346100.2:c.*986G>A (CCDC97) NP_001333029.1:n.*986G>A
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