Canonical Allele Identifier: CA4800396

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 833524
• ClinVar RCV Id: RCV001033961 ; RCV001272751
• dbSNP Id: rs201881873
• ExAC: 8:87683215 C / A
• gnomAD v2: 8-87683215-C-A
• gnomAD v3: 8-86670987-C-A
• gnomAD v4: 8-86670987-C-A
• COSMIC: COSM6181858
• MyVariant Identifiers: chr8:g.87683215C>A (hg19) ; chr8:g.86670987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670987C>A , CM000670.2:g.86670987C>A	GRCh38
NC_000008.10:g.87683215C>A , CM000670.1:g.87683215C>A	GRCh37
NC_000008.9:g.87752331C>A	NCBI36
NG_016980.1:g.77689G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.450G>T MANE Select	ENSP00000316605.5:p.Leu150Phe
ENST00000680314.1:n.211G>T
ENST00000681746.1:c.450G>T	ENSP00000505959.1:p.Leu150Phe
ENST00000320005.5:c.450G>T	ENSP00000316605.5:p.Leu150Phe
NM_019098.4:c.450G>T	NP_061971.3:p.Leu150Phe
XM_011517138.1:c.36G>T	XP_011515440.1:p.Leu12Phe
XM_011517138.2:c.36G>T	XP_011515440.1:p.Leu12Phe
NM_019098.5:c.450G>T MANE Select	NP_061971.3:p.Leu150Phe