Canonical Allele Identifier: CA14941591
Gene: TNRC6B HGNC NCBI
COSMIC:
COSN17135110 (not active)
COSN17136873 (not active)
COSN17137872 (not active)
COSN17138782 (not active)
COSN17139703 (not active)
COSN17141394 (not active)
COSN17142788 (not active)
COSN17145420 (not active)
COSN17148140 (not active)
COSN17149961 (not active)
COSN17151874 (not active)
MyVariant.info:
GRCh38 chr22:g.40056115T>C
GRCh37 chr22:g.40452119T>C
gnomAD v2:
22:40452119 T / C
gnomAD v3:
22:40056115 T / C
gnomAD v4:
chr22-40056115-T-C
Joint Max Group AF 0.75814397 (AFR)
Genomes Max Group AF 0.75814397 (AFR)
dbSNP:
9623117
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40056115T>C , CM000684.2:g.40056115T>C GRCh38
NC_000022.10:g.40452119T>C , CM000684.1:g.40452119T>C GRCh37
NC_000022.9:g.38782065T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301923.13:c.-121+11117T>C ENSP00000306759.9:n.-121+11117T>C
ENST00000402203.5:c.-121+10527T>C ENSP00000384795.1:n.-121+10527T>C
ENST00000441751.5:c.-121+11117T>C ENSP00000397491.1:n.-121+11117T>C
NM_001024843.1:c.-121+11117T>C NP_001020014.1:n.-121+11117T>C
NM_001024843.2:c.-121+11117T>C NP_001020014.1:n.-121+11117T>C
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