Canonical Allele Identifier: CA180875624
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs759163706
gnomAD v2: 8-87751849-T-G
gnomAD v3: 8-86739621-T-G
gnomAD v4: 8-86739621-T-G
MyVariant Identifiers: chr8:g.87751849T>G (hg19) chr8:g.86739621T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739621T>G , CM000670.2:g.86739621T>G GRCh38
NC_000008.10:g.87751849T>G , CM000670.1:g.87751849T>G GRCh37
NC_000008.9:g.87820965T>G NCBI36
NG_016980.1:g.9055A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+34A>C MANE Select ENSP00000316605.5:n.211+34A>C
ENST00000681746.1:c.211+34A>C ENSP00000505959.1:n.211+34A>C
ENST00000320005.5:c.211+34A>C ENSP00000316605.5:n.211+34A>C
ENST00000519777.1:n.193+34A>C
NM_019098.4:c.211+34A>C NP_061971.3:n.211+34A>C
NM_019098.5:c.211+34A>C MANE Select NP_061971.3:n.211+34A>C
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