Canonical Allele Identifier: CA371444341
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1430988
ClinVar RCV Id: RCV001948485
dbSNP Id: rs1822988745
gnomAD v3: 8-86632841-G-A
gnomAD v4: 8-86632841-G-A
MyVariant Identifiers: chr8:g.87645069G>A (hg19) chr8:g.86632841G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632841G>A , CM000670.2:g.86632841G>A GRCh38
NC_000008.10:g.87645069G>A , CM000670.1:g.87645069G>A GRCh37
NC_000008.9:g.87714185G>A NCBI36
NG_016980.1:g.115835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1231C>T MANE Select ENSP00000316605.5:p.Leu411Phe
ENST00000681546.1:n.1051C>T
ENST00000681746.1:c.1231C>T ENSP00000505959.1:p.Leu411Phe
ENST00000320005.5:c.1231C>T ENSP00000316605.5:p.Leu411Phe
NM_019098.4:c.1231C>T NP_061971.3:p.Leu411Phe
XM_011517138.1:c.817C>T XP_011515440.1:p.Leu273Phe
XM_011517138.2:c.817C>T XP_011515440.1:p.Leu273Phe
NM_019098.5:c.1231C>T MANE Select NP_061971.3:p.Leu411Phe
Search 100 bp 5'
Search 100 bp 3'