Canonical Allele Identifier: CA314279

Gene: CSTB

Linked Data

• ClinVar Variation Id: 205323
• ClinVar RCV Id: RCV000187275 ; RCV000700615 ; RCV001142989
• dbSNP Id: rs570768038
• ExAC: 21:45194187 C / T
• gnomAD v2: 21-45194187-C-T
• gnomAD v3: 21-43774306-C-T
• gnomAD v4: 21-43774306-C-T
• MyVariant Identifiers: chr21:g.45194187C>T (hg19) ; chr21:g.43774306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774306C>T , CM000683.2:g.43774306C>T	GRCh38
NC_000021.8:g.45194187C>T , CM000683.1:g.45194187C>T	GRCh37
NC_000021.7:g.44018615C>T	NCBI36
NG_011545.1:g.7073G>A , LRG_485:g.7073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.193G>A MANE Select	ENSP00000291568.6:p.Val65Ile
ENST00000480147.3:n.1963G>A
ENST00000639959.1:c.60G>A
ENST00000640406.1:c.*268G>A	ENSP00000492672.1:n.*268G>A
ENST00000675996.1:n.618G>A
ENST00000291568.5:c.193G>A	ENSP00000291568.5:p.Val65Ile
ENST00000480147.1:n.557G>A
NM_000100.3:c.193G>A , LRG_485t1:c.193G>A	NP_000091.1:p.Val65Ile
NM_000100.4:c.193G>A MANE Select	NP_000091.1:p.Val65Ile