Canonical Allele Identifier: CA371446459

Gene: CNGB3

Linked Data

• dbSNP Id: rs1821654180
• gnomAD v4: 8-86576040-C-T
• MyVariant Identifiers: chr8:g.87588268C>T (hg19) ; chr8:g.86576040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576040C>T , CM000670.2:g.86576040C>T	GRCh38
NC_000008.10:g.87588268C>T , CM000670.1:g.87588268C>T	GRCh37
NC_000008.9:g.87657384C>T	NCBI36
NG_016980.1:g.172636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2194G>A MANE Select	ENSP00000316605.5:p.Asp732Asn
ENST00000681546.1:n.2014G>A
ENST00000681746.1:c.*605G>A	ENSP00000505959.1:n.*605G>A
ENST00000320005.5:c.2194G>A	ENSP00000316605.5:p.Asp732Asn
ENST00000517327.5:c.276+2649G>A	ENSP00000428329.1:n.276+2649G>A
NM_019098.4:c.2194G>A	NP_061971.3:p.Asp732Asn
XM_011517138.1:c.1780G>A	XP_011515440.1:p.Asp594Asn
XM_011517138.2:c.1780G>A	XP_011515440.1:p.Asp594Asn
NM_019098.5:c.2194G>A MANE Select	NP_061971.3:p.Asp732Asn