Canonical Allele Identifier: CA16043122

Gene: CSTB

Linked Data

• ClinVar Variation Id: 373528
• ClinVar RCV Id: RCV000414490 ; RCV001215635 ; RCV001662367
• dbSNP Id: rs935774172
• gnomAD v2: 21-45194540-T-C
• gnomAD v3: 21-43774659-T-C
• gnomAD v4: 21-43774659-T-C
• MyVariant Identifiers: chr21:g.45194540T>C (hg19) ; chr21:g.43774659T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774659T>C , CM000683.2:g.43774659T>C	GRCh38
NC_000021.8:g.45194540T>C , CM000683.1:g.45194540T>C	GRCh37
NC_000021.7:g.44018968T>C	NCBI36
NG_011545.1:g.6720A>G , LRG_485:g.6720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.167A>G MANE Select	ENSP00000291568.6:p.Lys56Arg
ENST00000480147.3:n.1610A>G
ENST00000639959.1:c.36-329A>G
ENST00000640406.1:c.167A>G	ENSP00000492672.1:p.Lys56Arg
ENST00000675996.1:n.592A>G
ENST00000291568.5:c.167A>G	ENSP00000291568.5:p.Lys56Arg
ENST00000480147.1:n.204A>G
NM_000100.3:c.167A>G , LRG_485t1:c.167A>G	NP_000091.1:p.Lys56Arg
NM_000100.4:c.167A>G MANE Select	NP_000091.1:p.Lys56Arg