Canonical Allele Identifier: CA371450214

Gene: CNGB3

Linked Data

• dbSNP Id: rs1212185780
• gnomAD v3: 8-86671031-C-T
• gnomAD v4: 8-86671031-C-T
• MyVariant Identifiers: chr8:g.87683259C>T (hg19) ; chr8:g.86671031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671031C>T , CM000670.2:g.86671031C>T	GRCh38
NC_000008.10:g.87683259C>T , CM000670.1:g.87683259C>T	GRCh37
NC_000008.9:g.87752375C>T	NCBI36
NG_016980.1:g.77645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.406G>A MANE Select	ENSP00000316605.5:p.Val136Met
ENST00000680314.1:n.167G>A
ENST00000681746.1:c.406G>A	ENSP00000505959.1:p.Val136Met
ENST00000320005.5:c.406G>A	ENSP00000316605.5:p.Val136Met
NM_019098.4:c.406G>A	NP_061971.3:p.Val136Met
XM_011517138.1:c.-9G>A	XP_011515440.1:n.-9G>A
XM_011517138.2:c.-9G>A	XP_011515440.1:n.-9G>A
NM_019098.5:c.406G>A MANE Select	NP_061971.3:p.Val136Met