Canonical Allele Identifier: CA1116229657

Gene: CNGB3

Linked Data

• dbSNP Id: rs1821661452
• gnomAD v3: 8-86576317-G-A
• gnomAD v4: 8-86576317-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576317G>A , CM000670.2:g.86576317G>A	GRCh38
NC_000008.10:g.87588545G>A , CM000670.1:g.87588545G>A	GRCh37
NC_000008.9:g.87657661G>A	NCBI36
NG_016980.1:g.172359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2104-187C>T MANE Select	ENSP00000316605.5:n.2104-187C>T
ENST00000681546.1:n.1924-187C>T
ENST00000681746.1:c.*515-187C>T	ENSP00000505959.1:n.*515-187C>T
ENST00000320005.5:c.2104-187C>T	ENSP00000316605.5:n.2104-187C>T
ENST00000517327.5:c.276+2372C>T	ENSP00000428329.1:n.276+2372C>T
NM_019098.4:c.2104-187C>T	NP_061971.3:n.2104-187C>T
XM_011517138.1:c.1690-187C>T	XP_011515440.1:n.1690-187C>T
XM_011517138.2:c.1690-187C>T	XP_011515440.1:n.1690-187C>T
NM_019098.5:c.2104-187C>T MANE Select	NP_061971.3:n.2104-187C>T