Canonical Allele Identifier: CA2573143412

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1534056
• ClinVar RCV Id: RCV002071490
• dbSNP Id: rs2131597294
• gnomAD v4: 8-86647791-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647791G>A , CM000670.2:g.86647791G>A	GRCh38
NC_000008.10:g.87660019G>A , CM000670.1:g.87660019G>A	GRCh37
NC_000008.9:g.87729135G>A	NCBI36
NG_016980.1:g.100885C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.990+10C>T MANE Select	ENSP00000316605.5:n.990+10C>T
ENST00000681546.1:n.810+10C>T
ENST00000681746.1:c.990+10C>T	ENSP00000505959.1:n.990+10C>T
ENST00000320005.5:c.990+10C>T	ENSP00000316605.5:n.990+10C>T
NM_019098.4:c.990+10C>T	NP_061971.3:n.990+10C>T
XM_011517138.1:c.576+10C>T	XP_011515440.1:n.576+10C>T
XM_011517138.2:c.576+10C>T	XP_011515440.1:n.576+10C>T
NM_019098.5:c.990+10C>T MANE Select	NP_061971.3:n.990+10C>T