Canonical Allele Identifier: CA209054
Gene: CSTB HGNC NCBI

Linked Data

ClinVar Variation Id: 8395
ClinVar RCV Id: RCV001254919
dbSNP Id: rs147484110
ExAC: 21:45194641 C / G
gnomAD v2: 21-45194641-C-G
gnomAD v3: 21-43774760-C-G
gnomAD v4: 21-43774760-C-G
MyVariant Identifiers: chr21:g.45194641C>G (hg19) chr21:g.43774760C>G (hg38)
PubMed: PMID:8596935 PMID:9360639 PMID:12058102 PMID:17158032 PMID:18325013 PMID:20301321 PMID:21757863 PMID:22154554 PMID:23205931 PMID:26843564 PMID:28378817
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774760C>G , CM000683.2:g.43774760C>G GRCh38
NC_000021.8:g.45194641C>G , CM000683.1:g.45194641C>G GRCh37
NC_000021.7:g.44019069C>G NCBI36
NG_011545.1:g.6619G>C , LRG_485:g.6619G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.67-1G>C MANE Select ENSP00000291568.6:n.67-1G>C
ENST00000480147.3:n.1509G>C
ENST00000639959.1:c.36-430G>C
ENST00000640406.1:c.67-1G>C ENSP00000492672.1:n.67-1G>C
ENST00000675996.1:n.492-1G>C
ENST00000291568.5:c.67-1G>C ENSP00000291568.5:n.67-1G>C
ENST00000480147.1:n.104-1G>C
NM_000100.3:c.67-1G>C , LRG_485t1:c.67-1G>C NP_000091.1:n.67-1G>C
NM_000100.4:c.67-1G>C MANE Select NP_000091.1:n.67-1G>C
Search 100 bp 5'
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