Canonical Allele Identifier: CA371445979
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 958631
ClinVar RCV Id: RCV001231829 RCV001834009
dbSNP Id: rs375288585
gnomAD v4: 8-86575815-C-A
MyVariant Identifiers: chr8:g.87588043C>A (hg19) chr8:g.86575815C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575815C>A , CM000670.2:g.86575815C>A GRCh38
NC_000008.10:g.87588043C>A , CM000670.1:g.87588043C>A GRCh37
NC_000008.9:g.87657159C>A NCBI36
NG_016980.1:g.172861G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2419G>T MANE Select ENSP00000316605.5:p.Ala807Ser
ENST00000681546.1:n.2239G>T
ENST00000681746.1:c.*830G>T ENSP00000505959.1:n.*830G>T
ENST00000320005.5:c.2419G>T ENSP00000316605.5:p.Ala807Ser
ENST00000517327.5:c.276+2874G>T ENSP00000428329.1:n.276+2874G>T
NM_019098.4:c.2419G>T NP_061971.3:p.Ala807Ser
XM_011517138.1:c.2005G>T XP_011515440.1:p.Ala669Ser
XM_011517138.2:c.2005G>T XP_011515440.1:p.Ala669Ser
NM_019098.5:c.2419G>T MANE Select NP_061971.3:p.Ala807Ser
Search 100 bp 5'
Search 100 bp 3'