Canonical Allele Identifier: CA288793

Gene: CSTB

Linked Data

• ClinVar Variation Id: 128858
• ClinVar RCV Id: RCV000116838 ; RCV000402934 ; RCV000232779 ; RCV002312081
• dbSNP Id: rs4533
• ExAC: 21:45196136 C / A
• gnomAD v2: 21-45196136-C-A
• gnomAD v3: 21-43776255-C-A
• gnomAD v4: 21-43776255-C-A
• MyVariant Identifiers: chr21:g.45196136C>A (hg19) ; chr21:g.43776255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43776255C>A , CM000683.2:g.43776255C>A	GRCh38
NC_000021.8:g.45196136C>A , CM000683.1:g.45196136C>A	GRCh37
NC_000021.7:g.44020564C>A	NCBI36
NG_011545.1:g.5124G>T , LRG_485:g.5124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.15G>T MANE Select	ENSP00000291568.6:p.Ala5=
ENST00000480147.3:n.14G>T
ENST00000640406.1:c.15G>T	ENSP00000492672.1:p.Ala5=
ENST00000675996.1:n.76G>T
ENST00000291568.5:c.15G>T	ENSP00000291568.5:p.Ala5=
ENST00000480147.1:n.52G>T
NM_000100.3:c.15G>T , LRG_485t1:c.15G>T	NP_000091.1:p.Ala5=
NM_000100.4:c.15G>T MANE Select	NP_000091.1:p.Ala5=