Canonical Allele Identifier: CA4799733

Gene: CNGB3

Linked Data

• dbSNP Id: rs750147398
• ExAC: 8:87588070 C / G
• gnomAD v2: 8-87588070-C-G
• MyVariant Identifiers: chr8:g.87588070C>G (hg19) ; chr8:g.86575842C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575842C>G , CM000670.2:g.86575842C>G	GRCh38
NC_000008.10:g.87588070C>G , CM000670.1:g.87588070C>G	GRCh37
NC_000008.9:g.87657186C>G	NCBI36
NG_016980.1:g.172834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2392G>C MANE Select	ENSP00000316605.5:p.Val798Leu
ENST00000681546.1:n.2212G>C
ENST00000681746.1:c.*803G>C	ENSP00000505959.1:n.*803G>C
ENST00000320005.5:c.2392G>C	ENSP00000316605.5:p.Val798Leu
ENST00000517327.5:c.276+2847G>C	ENSP00000428329.1:n.276+2847G>C
NM_019098.4:c.2392G>C	NP_061971.3:p.Val798Leu
XM_011517138.1:c.1978G>C	XP_011515440.1:p.Val660Leu
XM_011517138.2:c.1978G>C	XP_011515440.1:p.Val660Leu
NM_019098.5:c.2392G>C MANE Select	NP_061971.3:p.Val798Leu