Canonical Allele Identifier: CA4800417

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1040310
• ClinVar RCV Id: RCV001343922 ; RCV001825898
• dbSNP Id: rs755429797
• ExAC: 8:87683312 G / A
• gnomAD v2: 8-87683312-G-A
• gnomAD v4: 8-86671084-G-A
• MyVariant Identifiers: chr8:g.87683312G>A (hg19) ; chr8:g.86671084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671084G>A , CM000670.2:g.86671084G>A	GRCh38
NC_000008.10:g.87683312G>A , CM000670.1:g.87683312G>A	GRCh37
NC_000008.9:g.87752428G>A	NCBI36
NG_016980.1:g.77592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.353C>T MANE Select	ENSP00000316605.5:p.Pro118Leu
ENST00000680314.1:n.114C>T
ENST00000681746.1:c.353C>T	ENSP00000505959.1:p.Pro118Leu
ENST00000320005.5:c.353C>T	ENSP00000316605.5:p.Pro118Leu
NM_019098.4:c.353C>T	NP_061971.3:p.Pro118Leu
XM_011517138.1:c.-62C>T	XP_011515440.1:n.-62C>T
XM_011517138.2:c.-62C>T	XP_011515440.1:n.-62C>T
NM_019098.5:c.353C>T MANE Select	NP_061971.3:p.Pro118Leu