Canonical Allele Identifier: CA4800414

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 261088
• ClinVar RCV Id: RCV000242350 ; RCV000961891 ; RCV001161027 ; RCV001272491 ; RCV001161026
• dbSNP Id: rs75858066
• ExAC: 8:87683311 C / A
• gnomAD v2: 8-87683311-C-A
• gnomAD v3: 8-86671083-C-A
• gnomAD v4: 8-86671083-C-A
• MyVariant Identifiers: chr8:g.87683311C>A (hg19) ; chr8:g.87683311_87683312delinsAG (hg19) ; chr8:g.86671083C>A (hg38) ; chr8:g.86671083_86671084delinsAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671083C>A , CM000670.2:g.86671083C>A	GRCh38
NC_000008.10:g.87683311C>A , CM000670.1:g.87683311C>A	GRCh37
NC_000008.9:g.87752427C>A	NCBI36
NG_016980.1:g.77593G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.354G>T MANE Select	ENSP00000316605.5:p.Pro118=
ENST00000680314.1:n.115G>T
ENST00000681746.1:c.354G>T	ENSP00000505959.1:p.Pro118=
ENST00000320005.5:c.354G>T	ENSP00000316605.5:p.Pro118=
NM_019098.4:c.354G>T	NP_061971.3:p.Pro118=
XM_011517138.1:c.-61G>T	XP_011515440.1:n.-61G>T
XM_011517138.2:c.-61G>T	XP_011515440.1:n.-61G>T
NM_019098.5:c.354G>T MANE Select	NP_061971.3:p.Pro118=