Canonical Allele Identifier: CA461815802
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86643768-A-G
MyVariant Identifiers: chr8:g.87655996A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643768A>G , CM000670.2:g.86643768A>G GRCh38
NC_000008.10:g.87655996A>G , CM000670.1:g.87655996A>G GRCh37
NC_000008.9:g.87725112A>G NCBI36
NG_016980.1:g.104908T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1161T>C MANE Select ENSP00000316605.5:p.Tyr387=
ENST00000681546.1:n.981T>C
ENST00000681746.1:c.1161T>C ENSP00000505959.1:p.Tyr387=
ENST00000320005.5:c.1161T>C ENSP00000316605.5:p.Tyr387=
NM_019098.4:c.1161T>C NP_061971.3:p.Tyr387=
XM_011517138.1:c.747T>C XP_011515440.1:p.Tyr249=
XM_011517138.2:c.747T>C XP_011515440.1:p.Tyr249=
NM_019098.5:c.1161T>C MANE Select NP_061971.3:p.Tyr387=
Search 100 bp 5'
Search 100 bp 3'