Canonical Allele Identifier: CA371448061

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86647799-A-G
• MyVariant Identifiers: chr8:g.87660027A>G (hg19) ; chr8:g.86647799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647799A>G , CM000670.2:g.86647799A>G	GRCh38
NC_000008.10:g.87660027A>G , CM000670.1:g.87660027A>G	GRCh37
NC_000008.9:g.87729143A>G	NCBI36
NG_016980.1:g.100877T>C

Transcript Alleles

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