Canonical Allele Identifier: CA10157856

Gene: CRYBB3

Linked Data

• ClinVar Variation Id: 340957
• ClinVar RCV Id: RCV000294053
• dbSNP Id: rs147937174
• ExAC: 22:25603127 G / A
• gnomAD v2: 22-25603127-G-A
• gnomAD v3: 22-25207160-G-A
• gnomAD v4: 22-25207160-G-A
• MyVariant Identifiers: chr22:g.25603127G>A (hg19) ; chr22:g.25207160G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25207160G>A , CM000684.2:g.25207160G>A	GRCh38
NC_000022.10:g.25603127G>A , CM000684.1:g.25603127G>A	GRCh37
NC_000022.9:g.23933127G>A	NCBI36
NG_009828.1:g.12303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215855.7:c.584G>A MANE Select	ENSP00000215855.2:p.Arg195His
ENST00000215855.6:c.584G>A	ENSP00000215855.2:p.Arg195His
ENST00000404334.1:c.*99G>A	ENSP00000386123.1:n.*99G>A
NM_004076.4:c.584G>A	NP_004067.1:p.Arg195His
XM_011529902.1:c.752G>A	XP_011528204.1:p.Arg251His
XM_011529902.3:c.752G>A	XP_011528204.1:p.Arg251His
XM_017028599.2:c.*99G>A	XP_016884088.1:n.*99G>A
NM_004076.5:c.584G>A MANE Select	NP_004067.1:p.Arg195His