Canonical Allele Identifier: CA396080092

Gene: CNGB1

Linked Data

• gnomAD v4: 16-57964160-G-T
• MyVariant Identifiers: chr16:g.57998064G>T (hg19) ; chr16:g.57964160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964160G>T , CM000678.2:g.57964160G>T	GRCh38
NC_000016.9:g.57998064G>T , CM000678.1:g.57998064G>T	GRCh37
NC_000016.8:g.56555565G>T	NCBI36
NG_016351.1:g.11957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.260C>A MANE Select	ENSP00000251102.8:p.Ala87Asp
ENST00000251102.12:c.260C>A	ENSP00000251102.8:p.Ala87Asp
ENST00000311183.8:c.260C>A	ENSP00000311670.4:p.Ala87Asp
ENST00000562761.1:c.260C>A	ENSP00000455708.1:p.Ala87Asp
ENST00000564448.5:c.260C>A	ENSP00000454633.1:p.Ala87Asp
ENST00000567568.1:n.318C>A
NM_001135639.1:c.260C>A	NP_001129111.1:p.Ala87Asp
NM_001286130.1:c.260C>A	NP_001273059.1:p.Ala87Asp
NM_001297.4:c.260C>A	NP_001288.3:p.Ala87Asp
XM_006721134.2:c.260C>A	XP_006721197.1:p.Ala87Asp
NM_001135639.2:c.260C>A	NP_001129111.1:p.Ala87Asp
NM_001286130.2:c.260C>A	NP_001273059.1:p.Ala87Asp
NM_001297.5:c.260C>A MANE Select	NP_001288.3:p.Ala87Asp