Canonical Allele Identifier: CA856379562
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1183007397
gnomAD v3: 8-86739589-CATTTCAGATACATATGT-C
gnomAD v4: 8-86739589-CATTTCAGATACATATGT-C
MyVariant Identifiers: chr8:g.87751818_87751834del (hg19) chr8:g.86739590_86739606del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739596_86739612del , CM000670.2:g.86739596_86739612del GRCh38
NC_000008.10:g.87751824_87751840del , CM000670.1:g.87751824_87751840del GRCh37
NC_000008.9:g.87820940_87820956del NCBI36
NG_016980.1:g.9070_9086del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+49_211+65del MANE Select ENSP00000316605.5:n.211+49_211+65del
ENST00000681746.1:c.211+49_211+65del ENSP00000505959.1:n.211+49_211+65del
ENST00000320005.5:c.211+49_211+65del ENSP00000316605.5:n.211+49_211+65del
ENST00000519777.1:n.193+49_193+65del
NM_019098.4:c.211+49_211+65del NP_061971.3:n.211+49_211+65del
NM_019098.5:c.211+49_211+65del MANE Select NP_061971.3:n.211+49_211+65del
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