Canonical Allele Identifier: CA321167837
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1207668
ClinVar RCV Id: RCV001575742
dbSNP Id: rs73906469
gnomAD v3: 21-43169359-G-C
gnomAD v4: 21-43169359-G-C
MyVariant Identifiers: chr21:g.43169359G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169359G>C , CM000683.2:g.43169359G>C GRCh38
NG_009823.1:g.5329G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+71G>C MANE Select ENSP00000291554.2:n.189+71G>C
ENST00000482775.1:n.202+71G>C
NM_000394.3:c.189+71G>C NP_000385.1:n.189+71G>C
XR_001755073.1:n.647+1678C>G
NM_000394.4:c.189+71G>C MANE Select NP_000385.1:n.189+71G>C
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