Canonical Allele Identifier: CA371446928

Gene: CNGB3

Linked Data

• dbSNP Id: rs1252983490
• gnomAD v2: 8-87656087-G-T
• gnomAD v4: 8-86643859-G-T
• MyVariant Identifiers: chr8:g.87656087G>T (hg19) ; chr8:g.86643859G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643859G>T , CM000670.2:g.86643859G>T	GRCh38
NC_000008.10:g.87656087G>T , CM000670.1:g.87656087G>T	GRCh37
NC_000008.9:g.87725203G>T	NCBI36
NG_016980.1:g.104817C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1070C>A MANE Select	ENSP00000316605.5:p.Thr357Asn
ENST00000681546.1:n.890C>A
ENST00000681746.1:c.1070C>A	ENSP00000505959.1:p.Thr357Asn
ENST00000320005.5:c.1070C>A	ENSP00000316605.5:p.Thr357Asn
NM_019098.4:c.1070C>A	NP_061971.3:p.Thr357Asn
XM_011517138.1:c.656C>A	XP_011515440.1:p.Thr219Asn
XM_011517138.2:c.656C>A	XP_011515440.1:p.Thr219Asn
NM_019098.5:c.1070C>A MANE Select	NP_061971.3:p.Thr357Asn