Canonical Allele Identifier: CA856346563

Gene: CNGB3

Linked Data

• dbSNP Id: rs1205229269
• gnomAD v3: 8-86647688-A-C
• gnomAD v4: 8-86647688-A-C
• MyVariant Identifiers: chr8:g.87659916A>C (hg19) ; chr8:g.86647688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647688A>C , CM000670.2:g.86647688A>C	GRCh38
NC_000008.10:g.87659916A>C , CM000670.1:g.87659916A>C	GRCh37
NC_000008.9:g.87729032A>C	NCBI36
NG_016980.1:g.100988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.990+113T>G MANE Select	ENSP00000316605.5:n.990+113T>G
ENST00000681546.1:n.810+113T>G
ENST00000681746.1:c.990+113T>G	ENSP00000505959.1:n.990+113T>G
ENST00000320005.5:c.990+113T>G	ENSP00000316605.5:n.990+113T>G
NM_019098.4:c.990+113T>G	NP_061971.3:n.990+113T>G
XM_011517138.1:c.576+113T>G	XP_011515440.1:n.576+113T>G
XM_011517138.2:c.576+113T>G	XP_011515440.1:n.576+113T>G
NM_019098.5:c.990+113T>G MANE Select	NP_061971.3:n.990+113T>G