Canonical Allele Identifier: CA583366258

Gene: CNGB3

Linked Data

• dbSNP Id: rs1168811004
• gnomAD v2: 8-87679399-G-T
• gnomAD v4: 8-86667171-G-T
• MyVariant Identifiers: chr8:g.87679399G>T (hg19) ; chr8:g.86667171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667171G>T , CM000670.2:g.86667171G>T	GRCh38
NC_000008.10:g.87679399G>T , CM000670.1:g.87679399G>T	GRCh37
NC_000008.9:g.87748515G>T	NCBI36
NG_016980.1:g.81505C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.644-38C>A MANE Select	ENSP00000316605.5:n.644-38C>A
ENST00000681746.1:c.644-38C>A	ENSP00000505959.1:n.644-38C>A
ENST00000320005.5:c.644-38C>A	ENSP00000316605.5:n.644-38C>A
NM_019098.4:c.644-38C>A	NP_061971.3:n.644-38C>A
XM_011517138.1:c.230-38C>A	XP_011515440.1:n.230-38C>A
XM_011517138.2:c.230-38C>A	XP_011515440.1:n.230-38C>A
NM_019098.5:c.644-38C>A MANE Select	NP_061971.3:n.644-38C>A