Canonical Allele Identifier: CA1799868902

Gene: CNGB3

Linked Data

• dbSNP Id: rs1585981717
• gnomAD v3: 8-86633090-C-A
• gnomAD v4: 8-86633090-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86633090C>A , CM000670.2:g.86633090C>A	GRCh38
NC_000008.10:g.87645318C>A , CM000670.1:g.87645318C>A	GRCh37
NC_000008.9:g.87714434C>A	NCBI36
NG_016980.1:g.115586G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179-197G>T MANE Select	ENSP00000316605.5:n.1179-197G>T
ENST00000681546.1:n.999-197G>T
ENST00000681746.1:c.1179-197G>T	ENSP00000505959.1:n.1179-197G>T
ENST00000320005.5:c.1179-197G>T	ENSP00000316605.5:n.1179-197G>T
NM_019098.4:c.1179-197G>T	NP_061971.3:n.1179-197G>T
XM_011517138.1:c.765-197G>T	XP_011515440.1:n.765-197G>T
XM_011517138.2:c.765-197G>T	XP_011515440.1:n.765-197G>T
NM_019098.5:c.1179-197G>T MANE Select	NP_061971.3:n.1179-197G>T