Canonical Allele Identifier: CA638097770
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs1437602567
gnomAD v2: 21-45193994-G-C
gnomAD v3: 21-43774113-G-C
gnomAD v4: 21-43774113-G-C
MyVariant Identifiers: chr21:g.45193994G>C (hg19) chr21:g.43774113G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774113G>C , CM000683.2:g.43774113G>C GRCh38
NC_000021.8:g.45193994G>C , CM000683.1:g.45193994G>C GRCh37
NC_000021.7:g.44018422G>C NCBI36
NG_011545.1:g.7266C>G , LRG_485:g.7266C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.*89C>G MANE Select ENSP00000291568.6:n.*89C>G
ENST00000480147.3:n.2156C>G
ENST00000639959.1:c.253C>G
ENST00000640406.1:c.*461C>G ENSP00000492672.1:n.*461C>G
ENST00000675996.1:n.811C>G
ENST00000291568.5:c.*89C>G ENSP00000291568.5:n.*89C>G
NM_000100.3:c.*89C>G , LRG_485t1:c.*89C>G NP_000091.1:n.*89C>G
NM_000100.4:c.*89C>G MANE Select NP_000091.1:n.*89C>G
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