Canonical Allele Identifier: CA856346552

Gene: CNGB3

Linked Data

• dbSNP Id: rs1167023280
• gnomAD v3: 8-86647676-A-T
• gnomAD v4: 8-86647676-A-T
• MyVariant Identifiers: chr8:g.87659904A>T (hg19) ; chr8:g.86647676A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647676A>T , CM000670.2:g.86647676A>T	GRCh38
NC_000008.10:g.87659904A>T , CM000670.1:g.87659904A>T	GRCh37
NC_000008.9:g.87729020A>T	NCBI36
NG_016980.1:g.101000T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.990+125T>A MANE Select	ENSP00000316605.5:n.990+125T>A
ENST00000681546.1:n.810+125T>A
ENST00000681746.1:c.990+125T>A	ENSP00000505959.1:n.990+125T>A
ENST00000320005.5:c.990+125T>A	ENSP00000316605.5:n.990+125T>A
NM_019098.4:c.990+125T>A	NP_061971.3:n.990+125T>A
XM_011517138.1:c.576+125T>A	XP_011515440.1:n.576+125T>A
XM_011517138.2:c.576+125T>A	XP_011515440.1:n.576+125T>A
NM_019098.5:c.990+125T>A MANE Select	NP_061971.3:n.990+125T>A