Canonical Allele Identifier: CA10165490

Gene: CRYBB1 CRYBA4

Linked Data

• ClinVar Variation Id: 468742
• ClinVar RCV Id: RCV000526314 ; RCV001573741 ; RCV001727749
• dbSNP Id: rs147206089
• ExAC: 22:27003957 G / A
• gnomAD v2: 22-27003957-G-A
• gnomAD v3: 22-26607993-G-A
• gnomAD v4: 22-26607993-G-A
• MyVariant Identifiers: chr22:g.27003957G>A (hg19) ; chr22:g.26607993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26607993G>A , CM000684.2:g.26607993G>A	GRCh38
NC_000022.10:g.27003957G>A , CM000684.1:g.27003957G>A	GRCh37
NC_000022.9:g.25333957G>A	NCBI36
NG_009826.1:g.15035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647569.1:n.140C>T (CRYBB1)
ENST00000647684.1:c.328C>T (CRYBB1) MANE Select	ENSP00000497249.1:p.Arg110Cys
ENST00000215939.2:c.328C>T (CRYBB1)	ENSP00000215939.2:p.Arg110Cys
NM_001887.3:c.328C>T (CRYBB1)	NP_001878.1:p.Arg110Cys
XM_006724140.2:c.-67G>A (CRYBA4)	XP_006724203.1:n.-67G>A
XM_011529899.1:c.328C>T (CRYBB1)	XP_011528201.1:p.Arg110Cys
NM_001887.4:c.328C>T (CRYBB1) MANE Select	NP_001878.1:p.Arg110Cys
XM_006724140.3:c.-67G>A (CRYBA4)	XP_006724203.1:n.-67G>A
XM_011529899.3:c.328C>T (CRYBB1)	XP_011528201.1:p.Arg110Cys