Canonical Allele Identifier: CA371450029

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86670946-G-T
• MyVariant Identifiers: chr8:g.87683174G>T (hg19) ; chr8:g.86670946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670946G>T , CM000670.2:g.86670946G>T	GRCh38
NC_000008.10:g.87683174G>T , CM000670.1:g.87683174G>T	GRCh37
NC_000008.9:g.87752290G>T	NCBI36
NG_016980.1:g.77730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.491C>A MANE Select	ENSP00000316605.5:p.Thr164Asn
ENST00000680314.1:n.252C>A
ENST00000681746.1:c.491C>A	ENSP00000505959.1:p.Thr164Asn
ENST00000320005.5:c.491C>A	ENSP00000316605.5:p.Thr164Asn
NM_019098.4:c.491C>A	NP_061971.3:p.Thr164Asn
XM_011517138.1:c.77C>A	XP_011515440.1:p.Thr26Asn
XM_011517138.2:c.77C>A	XP_011515440.1:p.Thr26Asn
NM_019098.5:c.491C>A MANE Select	NP_061971.3:p.Thr164Asn