Canonical Allele Identifier: CA4800108

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 972113
• ClinVar RCV Id: RCV001248071 ; RCV001835321
• dbSNP Id: rs139825253
• ExAC: 8:87645096 C / A
• gnomAD v2: 8-87645096-C-A
• gnomAD v3: 8-86632868-C-A
• gnomAD v4: 8-86632868-C-A
• MyVariant Identifiers: chr8:g.87645096C>A (hg19) ; chr8:g.86632868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632868C>A , CM000670.2:g.86632868C>A	GRCh38
NC_000008.10:g.87645096C>A , CM000670.1:g.87645096C>A	GRCh37
NC_000008.9:g.87714212C>A	NCBI36
NG_016980.1:g.115808G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1204G>T MANE Select	ENSP00000316605.5:p.Val402Phe
ENST00000681546.1:n.1024G>T
ENST00000681746.1:c.1204G>T	ENSP00000505959.1:p.Val402Phe
ENST00000320005.5:c.1204G>T	ENSP00000316605.5:p.Val402Phe
NM_019098.4:c.1204G>T	NP_061971.3:p.Val402Phe
XM_011517138.1:c.790G>T	XP_011515440.1:p.Val264Phe
XM_011517138.2:c.790G>T	XP_011515440.1:p.Val264Phe
NM_019098.5:c.1204G>T MANE Select	NP_061971.3:p.Val402Phe