Canonical Allele Identifier: CA4800221

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 288734
• ClinVar RCV Id: RCV000401931 ; RCV000892241 ; RCV001159528 ; RCV001159529 ; RCV001828257
• dbSNP Id: rs117806701
• ExAC: 8:87660107 G / A
• gnomAD v2: 8-87660107-G-A
• gnomAD v3: 8-86647879-G-A
• gnomAD v4: 8-86647879-G-A
• MyVariant Identifiers: chr8:g.87660107G>A (hg19) ; chr8:g.86647879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647879G>A , CM000670.2:g.86647879G>A	GRCh38
NC_000008.10:g.87660107G>A , CM000670.1:g.87660107G>A	GRCh37
NC_000008.9:g.87729223G>A	NCBI36
NG_016980.1:g.100797C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.912C>T MANE Select	ENSP00000316605.5:p.Val304=
ENST00000681546.1:n.732C>T
ENST00000681746.1:c.912C>T	ENSP00000505959.1:p.Val304=
ENST00000320005.5:c.912C>T	ENSP00000316605.5:p.Val304=
NM_019098.4:c.912C>T	NP_061971.3:p.Val304=
XM_011517138.1:c.498C>T	XP_011515440.1:p.Val166=
XM_011517138.2:c.498C>T	XP_011515440.1:p.Val166=
NM_019098.5:c.912C>T MANE Select	NP_061971.3:p.Val304=