Canonical Allele Identifier: CA371450156

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86671006-G-A
• MyVariant Identifiers: chr8:g.87683234G>A (hg19) ; chr8:g.86671006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671006G>A , CM000670.2:g.86671006G>A	GRCh38
NC_000008.10:g.87683234G>A , CM000670.1:g.87683234G>A	GRCh37
NC_000008.9:g.87752350G>A	NCBI36
NG_016980.1:g.77670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.431C>T MANE Select	ENSP00000316605.5:p.Ala144Val
ENST00000680314.1:n.192C>T
ENST00000681746.1:c.431C>T	ENSP00000505959.1:p.Ala144Val
ENST00000320005.5:c.431C>T	ENSP00000316605.5:p.Ala144Val
NM_019098.4:c.431C>T	NP_061971.3:p.Ala144Val
XM_011517138.1:c.17C>T	XP_011515440.1:p.Ala6Val
XM_011517138.2:c.17C>T	XP_011515440.1:p.Ala6Val
NM_019098.5:c.431C>T MANE Select	NP_061971.3:p.Ala144Val