Canonical Allele Identifier: CA145175
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 68460
ClinVar RCV Id: RCV001582557
dbSNP Id: rs397515625
gnomAD v3: 21-43169160-C-T
gnomAD v4: 21-43169160-C-T
COSMIC: COSM4630645
MyVariant Identifiers: chr21:g.43169160C>T (hg38)
PubMed: PMID:17724170 PMID:26694549
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169160C>T , CM000683.2:g.43169160C>T GRCh38
NG_009823.1:g.5130C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291554.6:c.61C>T MANE Select ENSP00000291554.2:p.Arg21Trp
ENST00000482775.1:n.74C>T
NM_000394.3:c.61C>T NP_000385.1:p.Arg21Trp
XR_001755073.1:n.647+1877G>A
NM_000394.4:c.61C>T MANE Select NP_000385.1:p.Arg21Trp
Search 100 bp 5'
Search 100 bp 3'