Canonical Allele Identifier: CA582917714
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1383056054
gnomAD v2: 8-87659921-G-A
gnomAD v3: 8-86647693-G-A
gnomAD v4: 8-86647693-G-A
MyVariant Identifiers: chr8:g.87659921G>A (hg19) chr8:g.86647693G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647693G>A , CM000670.2:g.86647693G>A GRCh38
NC_000008.10:g.87659921G>A , CM000670.1:g.87659921G>A GRCh37
NC_000008.9:g.87729037G>A NCBI36
NG_016980.1:g.100983C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.990+108C>T MANE Select ENSP00000316605.5:n.990+108C>T
ENST00000681546.1:n.810+108C>T
ENST00000681746.1:c.990+108C>T ENSP00000505959.1:n.990+108C>T
ENST00000320005.5:c.990+108C>T ENSP00000316605.5:n.990+108C>T
NM_019098.4:c.990+108C>T NP_061971.3:n.990+108C>T
XM_011517138.1:c.576+108C>T XP_011515440.1:n.576+108C>T
XM_011517138.2:c.576+108C>T XP_011515440.1:n.576+108C>T
NM_019098.5:c.990+108C>T MANE Select NP_061971.3:n.990+108C>T
Search 100 bp 5'
Search 100 bp 3'