Canonical Allele Identifier: CA180351334

Gene: CNGB3

Linked Data

• dbSNP Id: rs1055704871
• gnomAD v3: 8-86647682-G-A
• gnomAD v4: 8-86647682-G-A
• MyVariant Identifiers: chr8:g.87659910G>A (hg19) ; chr8:g.86647682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647682G>A , CM000670.2:g.86647682G>A	GRCh38
NC_000008.10:g.87659910G>A , CM000670.1:g.87659910G>A	GRCh37
NC_000008.9:g.87729026G>A	NCBI36
NG_016980.1:g.100994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.990+119C>T MANE Select	ENSP00000316605.5:n.990+119C>T
ENST00000681546.1:n.810+119C>T
ENST00000681746.1:c.990+119C>T	ENSP00000505959.1:n.990+119C>T
ENST00000320005.5:c.990+119C>T	ENSP00000316605.5:n.990+119C>T
NM_019098.4:c.990+119C>T	NP_061971.3:n.990+119C>T
XM_011517138.1:c.576+119C>T	XP_011515440.1:n.576+119C>T
XM_011517138.2:c.576+119C>T	XP_011515440.1:n.576+119C>T
NM_019098.5:c.990+119C>T MANE Select	NP_061971.3:n.990+119C>T