Canonical Allele Identifier: CA371446785

Gene: CNGB3

Linked Data

• dbSNP Id: rs1823238014
• gnomAD v3: 8-86643794-C-T
• gnomAD v4: 8-86643794-C-T
• MyVariant Identifiers: chr8:g.87656022C>T (hg19) ; chr8:g.86643794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643794C>T , CM000670.2:g.86643794C>T	GRCh38
NC_000008.10:g.87656022C>T , CM000670.1:g.87656022C>T	GRCh37
NC_000008.9:g.87725138C>T	NCBI36
NG_016980.1:g.104882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1135G>A MANE Select	ENSP00000316605.5:p.Gly379Arg
ENST00000681546.1:n.955G>A
ENST00000681746.1:c.1135G>A	ENSP00000505959.1:p.Gly379Arg
ENST00000320005.5:c.1135G>A	ENSP00000316605.5:p.Gly379Arg
NM_019098.4:c.1135G>A	NP_061971.3:p.Gly379Arg
XM_011517138.1:c.721G>A	XP_011515440.1:p.Gly241Arg
XM_011517138.2:c.721G>A	XP_011515440.1:p.Gly241Arg
NM_019098.5:c.1135G>A MANE Select	NP_061971.3:p.Gly379Arg