Canonical Allele Identifier: CA10157822

Gene: CRYBB3

Linked Data

• ClinVar Variation Id: 466359
• ClinVar RCV Id: RCV000528718
• dbSNP Id: rs4455261
• ExAC: 22:25603018 G / A
• gnomAD v2: 22-25603018-G-A
• gnomAD v3: 22-25207051-G-A
• gnomAD v4: 22-25207051-G-A
• MyVariant Identifiers: chr22:g.25603018G>A (hg19) ; chr22:g.25207051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25207051G>A , CM000684.2:g.25207051G>A	GRCh38
NC_000022.10:g.25603018G>A , CM000684.1:g.25603018G>A	GRCh37
NC_000022.9:g.23933018G>A	NCBI36
NG_009828.1:g.12194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215855.7:c.475G>A MANE Select	ENSP00000215855.2:p.Val159Ile
ENST00000215855.6:c.475G>A	ENSP00000215855.2:p.Val159Ile
ENST00000404334.1:c.332G>A	ENSP00000386123.1:p.Gly111Asp
NM_004076.4:c.475G>A	NP_004067.1:p.Val159Ile
XM_011529902.1:c.643G>A	XP_011528204.1:p.Val215Ile
XM_011529902.3:c.643G>A	XP_011528204.1:p.Val215Ile
XM_017028599.2:c.500G>A	XP_016884088.1:p.Gly167Asp
NM_004076.5:c.475G>A MANE Select	NP_004067.1:p.Val159Ile