Canonical Allele Identifier: CA371449891

Gene: CNGB3

Linked Data

• dbSNP Id: rs1370084296
• gnomAD v2: 8-87680339-T-A
• gnomAD v4: 8-86668111-T-A
• MyVariant Identifiers: chr8:g.87680339T>A (hg19) ; chr8:g.86668111T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86668111T>A , CM000670.2:g.86668111T>A	GRCh38
NC_000008.10:g.87680339T>A , CM000670.1:g.87680339T>A	GRCh37
NC_000008.9:g.87749455T>A	NCBI36
NG_016980.1:g.80565A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.551A>T MANE Select	ENSP00000316605.5:p.Tyr184Phe
ENST00000681746.1:c.551A>T	ENSP00000505959.1:p.Tyr184Phe
ENST00000320005.5:c.551A>T	ENSP00000316605.5:p.Tyr184Phe
NM_019098.4:c.551A>T	NP_061971.3:p.Tyr184Phe
XM_011517138.1:c.137A>T	XP_011515440.1:p.Tyr46Phe
XM_011517138.2:c.137A>T	XP_011515440.1:p.Tyr46Phe
NM_019098.5:c.551A>T MANE Select	NP_061971.3:p.Tyr184Phe