Canonical Allele Identifier: CA180875626
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1052078370
gnomAD v2: 8-87751886-G-C
gnomAD v4: 8-86739658-G-C
MyVariant Identifiers: chr8:g.87751886G>C (hg19) chr8:g.86739658G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739658G>C , CM000670.2:g.86739658G>C GRCh38
NC_000008.10:g.87751886G>C , CM000670.1:g.87751886G>C GRCh37
NC_000008.9:g.87821002G>C NCBI36
NG_016980.1:g.9018C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.208C>G MANE Select ENSP00000316605.5:p.Gln70Glu
ENST00000681746.1:c.208C>G ENSP00000505959.1:p.Gln70Glu
ENST00000320005.5:c.208C>G ENSP00000316605.5:p.Gln70Glu
ENST00000519777.1:n.190C>G
NM_019098.4:c.208C>G NP_061971.3:p.Gln70Glu
NM_019098.5:c.208C>G MANE Select NP_061971.3:p.Gln70Glu
Search 100 bp 5'
Search 100 bp 3'