Canonical Allele Identifier: CA371443099

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87641163G>T (hg19) ; chr8:g.86628935G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86628935G>T , CM000670.2:g.86628935G>T	GRCh38
NC_000008.10:g.87641163G>T , CM000670.1:g.87641163G>T	GRCh37
NC_000008.9:g.87710279G>T	NCBI36
NG_016980.1:g.119741C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1464C>A MANE Select	ENSP00000316605.5:p.Asp488Glu
ENST00000681546.1:n.1284C>A
ENST00000681746.1:c.1464C>A	ENSP00000505959.1:p.Asp488Glu
ENST00000320005.5:c.1464C>A	ENSP00000316605.5:p.Asp488Glu
NM_019098.4:c.1464C>A	NP_061971.3:p.Asp488Glu
XM_011517138.1:c.1050C>A	XP_011515440.1:p.Asp350Glu
XM_011517138.2:c.1050C>A	XP_011515440.1:p.Asp350Glu
NM_019098.5:c.1464C>A MANE Select	NP_061971.3:p.Asp488Glu