Canonical Allele Identifier: CA10165613

Gene: CRYBB1 CRYBA4

Linked Data

• ClinVar Variation Id: 341052
• ClinVar RCV Id: RCV000349410 ; RCV003957758
• dbSNP Id: rs200292741
• ExAC: 22:27012290 C / T
• gnomAD v2: 22-27012290-C-T
• gnomAD v3: 22-26616326-C-T
• gnomAD v4: 22-26616326-C-T
• MyVariant Identifiers: chr22:g.27012290C>T (hg19) ; chr22:g.26616326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26616326C>T , CM000684.2:g.26616326C>T	GRCh38
NC_000022.10:g.27012290C>T , CM000684.1:g.27012290C>T	GRCh37
NC_000022.9:g.25342290C>T	NCBI36
NG_009826.1:g.6702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.-7G>A (CRYBB1) MANE Select	ENSP00000497249.1:n.-7G>A
ENST00000215939.2:c.-7G>A (CRYBB1)	ENSP00000215939.2:n.-7G>A
NM_001887.3:c.-7G>A (CRYBB1)	NP_001878.1:n.-7G>A
XM_006724140.2:c.4-6259C>T (CRYBA4)	XP_006724203.1:n.4-6259C>T
XM_011529898.1:c.24-5582C>T (CRYBA4)	XP_011528200.1:n.24-5582C>T
XM_011529899.1:c.-7G>A (CRYBB1)	XP_011528201.1:n.-7G>A
NM_001887.4:c.-7G>A (CRYBB1) MANE Select	NP_001878.1:n.-7G>A
XM_006724140.3:c.4-6259C>T (CRYBA4)	XP_006724203.1:n.4-6259C>T
XM_011529899.3:c.-7G>A (CRYBB1)	XP_011528201.1:n.-7G>A