Canonical Allele Identifier: CA8083932

Gene: CNGB1

Linked Data

• dbSNP Id: rs756177770
• ExAC: 16:57998074 A / G
• gnomAD v2: 16-57998074-A-G
• gnomAD v4: 16-57964170-A-G
• MyVariant Identifiers: chr16:g.57998074A>G (hg19) ; chr16:g.57964170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964170A>G , CM000678.2:g.57964170A>G	GRCh38
NC_000016.9:g.57998074A>G , CM000678.1:g.57998074A>G	GRCh37
NC_000016.8:g.56555575A>G	NCBI36
NG_016351.1:g.11947T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.250T>C MANE Select	ENSP00000251102.8:p.Ser84Pro
ENST00000251102.12:c.250T>C	ENSP00000251102.8:p.Ser84Pro
ENST00000311183.8:c.250T>C	ENSP00000311670.4:p.Ser84Pro
ENST00000562761.1:c.250T>C	ENSP00000455708.1:p.Ser84Pro
ENST00000564448.5:c.250T>C	ENSP00000454633.1:p.Ser84Pro
ENST00000567568.1:n.308T>C
NM_001135639.1:c.250T>C	NP_001129111.1:p.Ser84Pro
NM_001286130.1:c.250T>C	NP_001273059.1:p.Ser84Pro
NM_001297.4:c.250T>C	NP_001288.3:p.Ser84Pro
XM_006721134.2:c.250T>C	XP_006721197.1:p.Ser84Pro
NM_001135639.2:c.250T>C	NP_001129111.1:p.Ser84Pro
NM_001286130.2:c.250T>C	NP_001273059.1:p.Ser84Pro
NM_001297.5:c.250T>C MANE Select	NP_001288.3:p.Ser84Pro