Canonical Allele Identifier: CA4800205

Gene: CNGB3

Linked Data

• dbSNP Id: rs763151392
• ExAC: 8:87660028 C / G
• gnomAD v2: 8-87660028-C-G
• gnomAD v4: 8-86647800-C-G
• MyVariant Identifiers: chr8:g.87660028C>G (hg19) ; chr8:g.86647800C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647800C>G , CM000670.2:g.86647800C>G	GRCh38
NC_000008.10:g.87660028C>G , CM000670.1:g.87660028C>G	GRCh37
NC_000008.9:g.87729144C>G	NCBI36
NG_016980.1:g.100876G>C

Transcript Alleles

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