Canonical Allele Identifier: CA10644763
Gene: CSTB HGNC NCBI

Linked Data

ClinVar Variation Id: 340114
ClinVar RCV Id: RCV000331960
dbSNP Id: rs149039598
gnomAD v2: 21-45193648-C-T
gnomAD v3: 21-43773767-C-T
gnomAD v4: 21-43773767-C-T
MyVariant Identifiers: chr21:g.45193648C>T (hg19) chr21:g.43773767C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43773767C>T , CM000683.2:g.43773767C>T GRCh38
NC_000021.8:g.45193648C>T , CM000683.1:g.45193648C>T GRCh37
NC_000021.7:g.44018076C>T NCBI36
NG_011545.1:g.7612G>A , LRG_485:g.7612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480147.3:n.2502G>A
ENST00000639959.1:c.599G>A
ENST00000640406.1:c.*807G>A ENSP00000492672.1:n.*807G>A
ENST00000675996.1:n.1157G>A
ENST00000291568.5:c.*435G>A ENSP00000291568.5:n.*435G>A
NM_000100.3:c.*435G>A , LRG_485t1:c.*435G>A NP_000091.1:n.*435G>A
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