Canonical Allele Identifier: CA10653983

Gene: CRYBB1

Linked Data

• ClinVar Variation Id: 341041
• ClinVar RCV Id: RCV000360648
• dbSNP Id: rs144489412
• gnomAD v2: 22-26995387-G-C
• gnomAD v3: 22-26599423-G-C
• gnomAD v4: 22-26599423-G-C
• MyVariant Identifiers: chr22:g.26995387G>C (hg19) ; chr22:g.26599423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26599423G>C , CM000684.2:g.26599423G>C	GRCh38
NC_000022.10:g.26995387G>C , CM000684.1:g.26995387G>C	GRCh37
NC_000022.9:g.25325387G>C	NCBI36
NG_009826.1:g.23605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.*67C>G MANE Select	ENSP00000497249.1:n.*67C>G
ENST00000215939.2:c.*67C>G	ENSP00000215939.2:n.*67C>G
NM_001887.3:c.*67C>G	NP_001878.1:n.*67C>G
XM_011529899.1:c.*67C>G	XP_011528201.1:n.*67C>G
NM_001887.4:c.*67C>G MANE Select	NP_001878.1:n.*67C>G
XM_011529899.3:c.*67C>G	XP_011528201.1:n.*67C>G