Canonical Allele Identifier: CA10650578
Gene: CSTB HGNC NCBI

Linked Data

ClinVar Variation Id: 340116
ClinVar RCV Id: RCV000274357 RCV001691970
dbSNP Id: rs28691645
gnomAD v2: 21-45193758-T-C
gnomAD v3: 21-43773877-T-C
gnomAD v4: 21-43773877-T-C
MyVariant Identifiers: chr21:g.45193758T>C (hg19) chr21:g.43773877T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43773877T>C , CM000683.2:g.43773877T>C GRCh38
NC_000021.8:g.45193758T>C , CM000683.1:g.45193758T>C GRCh37
NC_000021.7:g.44018186T>C NCBI36
NG_011545.1:g.7502A>G , LRG_485:g.7502A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480147.3:n.2392A>G
ENST00000639959.1:c.489A>G
ENST00000640406.1:c.*697A>G ENSP00000492672.1:n.*697A>G
ENST00000675996.1:n.1047A>G
ENST00000291568.5:c.*325A>G ENSP00000291568.5:n.*325A>G
NM_000100.3:c.*325A>G , LRG_485t1:c.*325A>G NP_000091.1:n.*325A>G
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