Canonical Allele Identifier: CA4800408
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1368038
ClinVar RCV Id: RCV001894541
dbSNP Id: rs760503824
ExAC: 8:87683268 G / A
gnomAD v2: 8-87683268-G-A
gnomAD v4: 8-86671040-G-A
MyVariant Identifiers: chr8:g.87683268G>A (hg19) chr8:g.86671040G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671040G>A , CM000670.2:g.86671040G>A GRCh38
NC_000008.10:g.87683268G>A , CM000670.1:g.87683268G>A GRCh37
NC_000008.9:g.87752384G>A NCBI36
NG_016980.1:g.77636C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.397C>T MANE Select ENSP00000316605.5:p.His133Tyr
ENST00000680314.1:n.158C>T
ENST00000681746.1:c.397C>T ENSP00000505959.1:p.His133Tyr
ENST00000320005.5:c.397C>T ENSP00000316605.5:p.His133Tyr
NM_019098.4:c.397C>T NP_061971.3:p.His133Tyr
XM_011517138.1:c.-18C>T XP_011515440.1:n.-18C>T
XM_011517138.2:c.-18C>T XP_011515440.1:n.-18C>T
NM_019098.5:c.397C>T MANE Select NP_061971.3:p.His133Tyr
Search 100 bp 5'
Search 100 bp 3'