Canonical Allele Identifier: CA371444422
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1526136
ClinVar RCV Id: RCV002052156
dbSNP Id: rs1178528306
gnomAD v2: 8-87645086-A-G
gnomAD v4: 8-86632858-A-G
MyVariant Identifiers: chr8:g.87645086A>G (hg19) chr8:g.86632858A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632858A>G , CM000670.2:g.86632858A>G GRCh38
NC_000008.10:g.87645086A>G , CM000670.1:g.87645086A>G GRCh37
NC_000008.9:g.87714202A>G NCBI36
NG_016980.1:g.115818T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1214T>C MANE Select ENSP00000316605.5:p.Leu405Ser
ENST00000681546.1:n.1034T>C
ENST00000681746.1:c.1214T>C ENSP00000505959.1:p.Leu405Ser
ENST00000320005.5:c.1214T>C ENSP00000316605.5:p.Leu405Ser
NM_019098.4:c.1214T>C NP_061971.3:p.Leu405Ser
XM_011517138.1:c.800T>C XP_011515440.1:p.Leu267Ser
XM_011517138.2:c.800T>C XP_011515440.1:p.Leu267Ser
NM_019098.5:c.1214T>C MANE Select NP_061971.3:p.Leu405Ser
Search 100 bp 5'
Search 100 bp 3'