Canonical Allele Identifier: CA10628353

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 363846
• ClinVar RCV Id: RCV000276887 ; RCV000313249
• dbSNP Id: rs568808064
• gnomAD v2: 8-87586562-C-G
• gnomAD v3: 8-86574334-C-G
• gnomAD v4: 8-86574334-C-G
• MyVariant Identifiers: chr8:g.87586562C>G (hg19) ; chr8:g.86574334C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574334C>G , CM000670.2:g.86574334C>G	GRCh38
NC_000008.10:g.87586562C>G , CM000670.1:g.87586562C>G	GRCh37
NC_000008.9:g.87655678C>G	NCBI36
NG_016980.1:g.174342G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.*1470G>C MANE Select	ENSP00000316605.5:n.*1470G>C
ENST00000681546.1:n.3720G>C
ENST00000681746.1:c.*2311G>C	ENSP00000505959.1:n.*2311G>C
ENST00000320005.5:c.*1470G>C	ENSP00000316605.5:n.*1470G>C
ENST00000517327.5:c.276+4355G>C	ENSP00000428329.1:n.276+4355G>C
NM_019098.4:c.*1470G>C	NP_061971.3:n.*1470G>C
XM_011517138.1:c.*1470G>C	XP_011515440.1:n.*1470G>C
XM_011517138.2:c.*1470G>C	XP_011515440.1:n.*1470G>C
NM_019098.5:c.*1470G>C MANE Select	NP_061971.3:n.*1470G>C