Canonical Allele Identifier: CA1024731541

Gene: CRYBB1 CRYBA4

Linked Data

• dbSNP Id: rs1929355270
• gnomAD v3: 22-26616340-T-C
• gnomAD v4: 22-26616340-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26616340T>C , CM000684.2:g.26616340T>C	GRCh38
NC_000022.10:g.27012304T>C , CM000684.1:g.27012304T>C	GRCh37
NC_000022.9:g.25342304T>C	NCBI36
NG_009826.1:g.6688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.-19-2A>G (CRYBB1) MANE Select	ENSP00000497249.1:n.-19-2A>G
ENST00000215939.2:c.-19-2A>G (CRYBB1)	ENSP00000215939.2:n.-19-2A>G
NM_001887.3:c.-19-2A>G (CRYBB1)	NP_001878.1:n.-19-2A>G
XM_006724140.2:c.4-6245T>C (CRYBA4)	XP_006724203.1:n.4-6245T>C
XM_011529898.1:c.24-5568T>C (CRYBA4)	XP_011528200.1:n.24-5568T>C
XM_011529899.1:c.-9-12A>G (CRYBB1)	XP_011528201.1:n.-9-12A>G
NM_001887.4:c.-19-2A>G (CRYBB1) MANE Select	NP_001878.1:n.-19-2A>G
XM_006724140.3:c.4-6245T>C (CRYBA4)	XP_006724203.1:n.4-6245T>C
XM_011529899.3:c.-9-12A>G (CRYBB1)	XP_011528201.1:n.-9-12A>G