Canonical Allele Identifier: CA241275
Gene: CSTB HGNC NCBI

Linked Data

ClinVar Variation Id: 195015
ClinVar RCV Id: RCV000175522 RCV000187274 RCV000624931 RCV001084812 RCV002362892 RCV003947486
dbSNP Id: rs143153487
ExAC: 21:45194586 C / T
gnomAD v2: 21-45194586-C-T
gnomAD v3: 21-43774705-C-T
gnomAD v4: 21-43774705-C-T
MyVariant Identifiers: chr21:g.45194586C>T (hg19) chr21:g.43774705C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774705C>T , CM000683.2:g.43774705C>T GRCh38
NC_000021.8:g.45194586C>T , CM000683.1:g.45194586C>T GRCh37
NC_000021.7:g.44019014C>T NCBI36
NG_011545.1:g.6674G>A , LRG_485:g.6674G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.121G>A MANE Select ENSP00000291568.6:p.Val41Met
ENST00000480147.3:n.1564G>A
ENST00000639959.1:c.36-375G>A
ENST00000640406.1:c.121G>A ENSP00000492672.1:p.Val41Met
ENST00000675996.1:n.546G>A
ENST00000291568.5:c.121G>A ENSP00000291568.5:p.Val41Met
ENST00000480147.1:n.158G>A
NM_000100.3:c.121G>A , LRG_485t1:c.121G>A NP_000091.1:p.Val41Met
NM_000100.4:c.121G>A MANE Select NP_000091.1:p.Val41Met
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Search 100 bp 3'