Canonical Allele Identifier: CA977728472

Gene: CNGB1

Linked Data

• dbSNP Id: rs1962326589
• gnomAD v3: 16-57964073-T-G
• gnomAD v4: 16-57964073-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964073T>G , CM000678.2:g.57964073T>G	GRCh38
NC_000016.9:g.57997977T>G , CM000678.1:g.57997977T>G	GRCh37
NC_000016.8:g.56555478T>G	NCBI36
NG_016351.1:g.12044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.290+57A>C MANE Select	ENSP00000251102.8:n.290+57A>C
ENST00000251102.12:c.290+57A>C	ENSP00000251102.8:n.290+57A>C
ENST00000311183.8:c.290+57A>C	ENSP00000311670.4:n.290+57A>C
ENST00000562761.1:c.290+57A>C	ENSP00000455708.1:n.290+57A>C
ENST00000564448.5:c.290+57A>C	ENSP00000454633.1:n.290+57A>C
ENST00000567568.1:n.405A>C
NM_001135639.1:c.290+57A>C	NP_001129111.1:n.290+57A>C
NM_001286130.1:c.290+57A>C	NP_001273059.1:n.290+57A>C
NM_001297.4:c.290+57A>C	NP_001288.3:n.290+57A>C
XM_006721134.2:c.290+57A>C	XP_006721197.1:n.290+57A>C
NM_001135639.2:c.290+57A>C	NP_001129111.1:n.290+57A>C
NM_001286130.2:c.290+57A>C	NP_001273059.1:n.290+57A>C
NM_001297.5:c.290+57A>C MANE Select	NP_001288.3:n.290+57A>C