Canonical Allele Identifier: CA10165355

Gene: CRYBB1

Linked Data

• ClinVar Variation Id: 341042
• ClinVar RCV Id: RCV000268311 ; RCV003910338
• dbSNP Id: rs142495368
• ExAC: 22:26995469 T / C
• gnomAD v2: 22-26995469-T-C
• gnomAD v3: 22-26599505-T-C
• gnomAD v4: 22-26599505-T-C
• MyVariant Identifiers: chr22:g.26995469T>C (hg19) ; chr22:g.26599505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26599505T>C , CM000684.2:g.26599505T>C	GRCh38
NC_000022.10:g.26995469T>C , CM000684.1:g.26995469T>C	GRCh37
NC_000022.9:g.25325469T>C	NCBI36
NG_009826.1:g.23523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.744A>G MANE Select	ENSP00000497249.1:p.Thr248=
ENST00000215939.2:c.744A>G	ENSP00000215939.2:p.Thr248=
NM_001887.3:c.744A>G	NP_001878.1:p.Thr248=
XM_011529899.1:c.744A>G	XP_011528201.1:p.Thr248=
NM_001887.4:c.744A>G MANE Select	NP_001878.1:p.Thr248=
XM_011529899.3:c.744A>G	XP_011528201.1:p.Thr248=