Canonical Allele Identifier: CA314304
Gene: CSTB HGNC NCBI
ClinVar RCV:
RCV000008904
RCV000626611
RCV000656065
RCV001387303
RCV002472925
ClinVar Variation:
8396
dbSNP:
74315442
gnomAD v2:
21:45194178 G / A
gnomAD v3:
21:43774297 G / A
gnomAD v4:
chr21-43774297-G-A
Joint Max Group AF 0.00004781 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00004899 (NFE)
MyVariant.info:
GRCh38 chr21:g.43774297G>A
GRCh37 chr21:g.45194178G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774297G>A , CM000683.2:g.43774297G>A GRCh38
NC_000021.8:g.45194178G>A , CM000683.1:g.45194178G>A GRCh37
NC_000021.7:g.44018606G>A NCBI36
NG_011545.1:g.7082C>T , LRG_485:g.7082C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.202C>T MANE Select ENSP00000291568.6:p.Arg68Ter
ENST00000480147.3:n.1972C>T
ENST00000639959.1:c.69C>T
ENST00000640406.1:c.*277C>T ENSP00000492672.1:n.*277C>T
ENST00000675996.1:n.627C>T
ENST00000291568.5:c.202C>T ENSP00000291568.5:p.Arg68Ter
ENST00000480147.1:n.566C>T
NM_000100.3:c.202C>T , LRG_485t1:c.202C>T NP_000091.1:p.Arg68Ter
NM_000100.4:c.202C>T MANE Select NP_000091.1:p.Arg68Ter
Search 100 bp 5'
Search 100 bp 3'