Canonical Allele Identifier: CA371450291

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86671069-A-G
• MyVariant Identifiers: chr8:g.87683297A>G (hg19) ; chr8:g.86671069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671069A>G , CM000670.2:g.86671069A>G	GRCh38
NC_000008.10:g.87683297A>G , CM000670.1:g.87683297A>G	GRCh37
NC_000008.9:g.87752413A>G	NCBI36
NG_016980.1:g.77607T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.368T>C MANE Select	ENSP00000316605.5:p.Val123Ala
ENST00000680314.1:n.129T>C
ENST00000681746.1:c.368T>C	ENSP00000505959.1:p.Val123Ala
ENST00000320005.5:c.368T>C	ENSP00000316605.5:p.Val123Ala
NM_019098.4:c.368T>C	NP_061971.3:p.Val123Ala
XM_011517138.1:c.-47T>C	XP_011515440.1:n.-47T>C
XM_011517138.2:c.-47T>C	XP_011515440.1:n.-47T>C
NM_019098.5:c.368T>C MANE Select	NP_061971.3:p.Val123Ala