Canonical Allele Identifier: CA410407951
Gene: CSTB HGNC NCBI

Linked Data

gnomAD v4: 21-43774297-G-C
MyVariant Identifiers: chr21:g.45194178G>C (hg19) chr21:g.43774297G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.202C>G MANE Select ENSP00000291568.6:p.Arg68Gly
ENST00000480147.3:n.1972C>G
ENST00000639959.1:c.69C>G
ENST00000640406.1:c.*277C>G ENSP00000492672.1:n.*277C>G
ENST00000675996.1:n.627C>G
ENST00000291568.5:c.202C>G ENSP00000291568.5:p.Arg68Gly
ENST00000480147.1:n.566C>G
NM_000100.3:c.202C>G , LRG_485t1:c.202C>G NP_000091.1:p.Arg68Gly
NM_000100.4:c.202C>G MANE Select NP_000091.1:p.Arg68Gly
Search 100 bp 5'
Search 100 bp 3'