Canonical Allele Identifier: CA4800206
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs771140264
ExAC: 8:87660038 C / G
gnomAD v2: 8-87660038-C-G
gnomAD v4: 8-86647810-C-G
MyVariant Identifiers: chr8:g.87660038C>G (hg19) chr8:g.86647810C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647810C>G , CM000670.2:g.86647810C>G GRCh38
NC_000008.10:g.87660038C>G , CM000670.1:g.87660038C>G GRCh37
NC_000008.9:g.87729154C>G NCBI36
NG_016980.1:g.100866G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.981G>C MANE Select ENSP00000316605.5:p.Arg327Ser
ENST00000681546.1:n.801G>C
ENST00000681746.1:c.981G>C ENSP00000505959.1:p.Arg327Ser
ENST00000320005.5:c.981G>C ENSP00000316605.5:p.Arg327Ser
NM_019098.4:c.981G>C NP_061971.3:p.Arg327Ser
XM_011517138.1:c.567G>C XP_011515440.1:p.Arg189Ser
XM_011517138.2:c.567G>C XP_011515440.1:p.Arg189Ser
NM_019098.5:c.981G>C MANE Select NP_061971.3:p.Arg327Ser
Search 100 bp 5'
Search 100 bp 3'