Canonical Allele Identifier: CA461831090
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1388633304
gnomAD v2: 8-87680263-G-A
gnomAD v4: 8-86668035-G-A
MyVariant Identifiers: chr8:g.87680263G>A (hg19) chr8:g.86668035G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668035G>A , CM000670.2:g.86668035G>A GRCh38
NC_000008.10:g.87680263G>A , CM000670.1:g.87680263G>A GRCh37
NC_000008.9:g.87749379G>A NCBI36
NG_016980.1:g.80641C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.627C>T MANE Select ENSP00000316605.5:p.Ser209=
ENST00000681746.1:c.627C>T ENSP00000505959.1:p.Ser209=
ENST00000320005.5:c.627C>T ENSP00000316605.5:p.Ser209=
NM_019098.4:c.627C>T NP_061971.3:p.Ser209=
XM_011517138.1:c.213C>T XP_011515440.1:p.Ser71=
XM_011517138.2:c.213C>T XP_011515440.1:p.Ser71=
NM_019098.5:c.627C>T MANE Select NP_061971.3:p.Ser209=
Search 100 bp 5'
Search 100 bp 3'