Canonical Allele Identifier: CA371450209

Gene: CNGB3

Linked Data

• dbSNP Id: rs1291159709
• gnomAD v3: 8-86671030-A-G
• gnomAD v4: 8-86671030-A-G
• MyVariant Identifiers: chr8:g.87683258A>G (hg19) ; chr8:g.86671030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671030A>G , CM000670.2:g.86671030A>G	GRCh38
NC_000008.10:g.87683258A>G , CM000670.1:g.87683258A>G	GRCh37
NC_000008.9:g.87752374A>G	NCBI36
NG_016980.1:g.77646T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.407T>C MANE Select	ENSP00000316605.5:p.Val136Ala
ENST00000680314.1:n.168T>C
ENST00000681746.1:c.407T>C	ENSP00000505959.1:p.Val136Ala
ENST00000320005.5:c.407T>C	ENSP00000316605.5:p.Val136Ala
NM_019098.4:c.407T>C	NP_061971.3:p.Val136Ala
XM_011517138.1:c.-8T>C	XP_011515440.1:n.-8T>C
XM_011517138.2:c.-8T>C	XP_011515440.1:n.-8T>C
NM_019098.5:c.407T>C MANE Select	NP_061971.3:p.Val136Ala