Canonical Allele Identifier: CA4800400
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 957102
ClinVar RCV Id: RCV001230020 RCV001833988
dbSNP Id: rs769966310
ExAC: 8:87683224 C / A
gnomAD v2: 8-87683224-C-A
gnomAD v3: 8-86670996-C-A
gnomAD v4: 8-86670996-C-A
MyVariant Identifiers: chr8:g.87683224C>A (hg19) chr8:g.86670996C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670996C>A , CM000670.2:g.86670996C>A GRCh38
NC_000008.10:g.87683224C>A , CM000670.1:g.87683224C>A GRCh37
NC_000008.9:g.87752340C>A NCBI36
NG_016980.1:g.77680G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.441G>T MANE Select ENSP00000316605.5:p.Lys147Asn
ENST00000680314.1:n.202G>T
ENST00000681746.1:c.441G>T ENSP00000505959.1:p.Lys147Asn
ENST00000320005.5:c.441G>T ENSP00000316605.5:p.Lys147Asn
NM_019098.4:c.441G>T NP_061971.3:p.Lys147Asn
XM_011517138.1:c.27G>T XP_011515440.1:p.Lys9Asn
XM_011517138.2:c.27G>T XP_011515440.1:p.Lys9Asn
NM_019098.5:c.441G>T MANE Select NP_061971.3:p.Lys147Asn
Search 100 bp 5'
Search 100 bp 3'