Canonical Allele Identifier: CA2633527702

Gene: CNGB1

Linked Data

• gnomAD v4: 16-57964061-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964061G>A , CM000678.2:g.57964061G>A	GRCh38
NC_000016.9:g.57997965G>A , CM000678.1:g.57997965G>A	GRCh37
NC_000016.8:g.56555466G>A	NCBI36
NG_016351.1:g.12056C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.290+69C>T MANE Select	ENSP00000251102.8:n.290+69C>T
ENST00000251102.12:c.290+69C>T	ENSP00000251102.8:n.290+69C>T
ENST00000311183.8:c.290+69C>T	ENSP00000311670.4:n.290+69C>T
ENST00000562761.1:c.290+69C>T	ENSP00000455708.1:n.290+69C>T
ENST00000564448.5:c.290+69C>T	ENSP00000454633.1:n.290+69C>T
ENST00000567568.1:n.417C>T
NM_001135639.1:c.290+69C>T	NP_001129111.1:n.290+69C>T
NM_001286130.1:c.290+69C>T	NP_001273059.1:n.290+69C>T
NM_001297.4:c.290+69C>T	NP_001288.3:n.290+69C>T
XM_006721134.2:c.290+69C>T	XP_006721197.1:n.290+69C>T
NM_001135639.2:c.290+69C>T	NP_001129111.1:n.290+69C>T
NM_001286130.2:c.290+69C>T	NP_001273059.1:n.290+69C>T
NM_001297.5:c.290+69C>T MANE Select	NP_001288.3:n.290+69C>T