Canonical Allele Identifier: CA582921392
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1250794644
gnomAD v2: 8-87683708-G-T
gnomAD v3: 8-86671480-G-T
gnomAD v4: 8-86671480-G-T
MyVariant Identifiers: chr8:g.87683708G>T (hg19) chr8:g.86671480G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671480G>T , CM000670.2:g.86671480G>T GRCh38
NC_000008.10:g.87683708G>T , CM000670.1:g.87683708G>T GRCh37
NC_000008.9:g.87752824G>T NCBI36
NG_016980.1:g.77196C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-382C>A MANE Select ENSP00000316605.5:n.339-382C>A
ENST00000680314.1:n.100-382C>A
ENST00000681746.1:c.339-382C>A ENSP00000505959.1:n.339-382C>A
ENST00000320005.5:c.339-382C>A ENSP00000316605.5:n.339-382C>A
NM_019098.4:c.339-382C>A NP_061971.3:n.339-382C>A
XM_011517138.1:c.-76-382C>A XP_011515440.1:n.-76-382C>A
XM_011517138.2:c.-76-382C>A XP_011515440.1:n.-76-382C>A
NM_019098.5:c.339-382C>A MANE Select NP_061971.3:n.339-382C>A
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