Canonical Allele Identifier: CA371450197

Gene: CNGB3

Linked Data

• dbSNP Id: rs1563749108
• gnomAD v2: 8-87683252-C-T
• gnomAD v4: 8-86671024-C-T
• MyVariant Identifiers: chr8:g.87683252C>T (hg19) ; chr8:g.87683252_87683253delinsTT (hg19) ; chr8:g.86671024C>T (hg38) ; chr8:g.86671024_86671025delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671024C>T , CM000670.2:g.86671024C>T	GRCh38
NC_000008.10:g.87683252C>T , CM000670.1:g.87683252C>T	GRCh37
NC_000008.9:g.87752368C>T	NCBI36
NG_016980.1:g.77652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.413G>A MANE Select	ENSP00000316605.5:p.Arg138Lys
ENST00000680314.1:n.174G>A
ENST00000681746.1:c.413G>A	ENSP00000505959.1:p.Arg138Lys
ENST00000320005.5:c.413G>A	ENSP00000316605.5:p.Arg138Lys
NM_019098.4:c.413G>A	NP_061971.3:p.Arg138Lys
XM_011517138.1:c.-2G>A	XP_011515440.1:n.-2G>A
XM_011517138.2:c.-2G>A	XP_011515440.1:n.-2G>A
NM_019098.5:c.413G>A MANE Select	NP_061971.3:p.Arg138Lys