Canonical Allele Identifier: CA209054

Gene: CSTB

Linked Data

• ClinVar Variation Id: 8395
• ClinVar RCV Id: RCV000008903 ; RCV000187278 ; RCV000622443 ; RCV000638304 ; RCV001003638 ; 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

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