Canonical Allele Identifier: CA856379650
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1160550121
gnomAD v3: 8-86739637-TTC-T
gnomAD v4: 8-86739637-TTC-T
MyVariant Identifiers: chr8:g.87751866_87751867del (hg19) chr8:g.86739638_86739639del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739638_86739639del , CM000670.2:g.86739638_86739639del GRCh38
NC_000008.10:g.87751866_87751867del , CM000670.1:g.87751866_87751867del GRCh37
NC_000008.9:g.87820982_87820983del NCBI36
NG_016980.1:g.9037_9038del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+16_211+17del MANE Select ENSP00000316605.5:n.211+16_211+17del
ENST00000681746.1:c.211+16_211+17del ENSP00000505959.1:n.211+16_211+17del
ENST00000320005.5:c.211+16_211+17del ENSP00000316605.5:n.211+16_211+17del
ENST00000519777.1:n.193+16_193+17del
NM_019098.4:c.211+16_211+17del NP_061971.3:n.211+16_211+17del
NM_019098.5:c.211+16_211+17del MANE Select NP_061971.3:n.211+16_211+17del
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