Canonical Allele Identifier: CA278142
Gene: CRYBB3 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.25207069G>C
GRCh37 chr22:g.25603036G>C
Revel Score:
ENST00000215855 (MANE Select) 0.902
gnomAD v2:
22:25603036 G / C
gnomAD v4:
chr22-25207069-G-C
Joint Max Group AF 0.00005937 (SAS)
Exomes Max Group AF 0.00006246 (SAS)
ClinVar RCV:
RCV000018457
RCV000203352
ClinVar Variation:
16948
dbSNP:
74315490
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25207069G>C , CM000684.2:g.25207069G>C GRCh38
NC_000022.10:g.25603036G>C , CM000684.1:g.25603036G>C GRCh37
NC_000022.9:g.23933036G>C NCBI36
NG_009828.1:g.12212G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215855.7:c.493G>C MANE Select ENSP00000215855.2:p.Gly165Arg
ENST00000215855.6:c.493G>C ENSP00000215855.2:p.Gly165Arg
ENST00000404334.1:c.*8G>C ENSP00000386123.1:n.*8G>C
NM_004076.4:c.493G>C NP_004067.1:p.Gly165Arg
XM_011529902.1:c.661G>C XP_011528204.1:p.Gly221Arg
XM_011529902.3:c.661G>C XP_011528204.1:p.Gly221Arg
XM_017028599.2:c.*8G>C XP_016884088.1:n.*8G>C
NM_004076.5:c.493G>C MANE Select NP_004067.1:p.Gly165Arg
Search 100 bp 5'
Search 100 bp 3'