Canonical Allele Identifier: CA856371446
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1198632299
gnomAD v3: 8-86726558-A-AT
gnomAD v4: 8-86726558-A-AT
MyVariant Identifiers: chr8:g.87738786_87738787insT (hg19) chr8:g.86726558_86726559insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86726561dup , CM000670.2:g.86726561dup GRCh38
NC_000008.10:g.87738789dup , CM000670.1:g.87738789dup GRCh37
NC_000008.9:g.87807905dup NCBI36
NG_016980.1:g.22117dup

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.310dup MANE Select ENSP00000316605.5:p.Met104AsnfsTer23
ENST00000681746.1:c.310dup ENSP00000505959.1:p.Met104AsnfsTer23
ENST00000320005.5:c.310dup ENSP00000316605.5:p.Met104AsnfsTer23
ENST00000519777.1:n.292dup
NM_019098.4:c.310dup NP_061971.3:p.Met104AsnfsTer23
NM_019098.5:c.310dup MANE Select NP_061971.3:p.Met104AsnfsTer23
Search 100 bp 5'
Search 100 bp 3'