Canonical Allele Identifier: CA221645

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 93705
• ClinVar RCV Id: RCV000174506 ; RCV000505022 ; RCV001075139 ; RCV002498400
• dbSNP Id: rs372504780
• ExAC: 16:57984367 G / A
• gnomAD v2: 16-57984367-G-A
• gnomAD v3: 16-57950463-G-A
• gnomAD v4: 16-57950463-G-A
• MyVariant Identifiers: chr16:g.57984367G>A (hg19) ; chr16:g.57950463G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57950463G>A , CM000678.2:g.57950463G>A	GRCh38
NC_000016.9:g.57984367G>A , CM000678.1:g.57984367G>A	GRCh37
NC_000016.8:g.56541868G>A	NCBI36
NG_016351.1:g.25654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.952C>T MANE Select	ENSP00000251102.8:p.Gln318Ter
ENST00000251102.12:c.952C>T	ENSP00000251102.8:p.Gln318Ter
ENST00000564448.5:c.934C>T	ENSP00000454633.1:p.Gln312Ter
NM_001286130.1:c.934C>T	NP_001273059.1:p.Gln312Ter
NM_001297.4:c.952C>T	NP_001288.3:p.Gln318Ter
XM_006721134.2:c.952C>T	XP_006721197.1:p.Gln318Ter
NM_001286130.2:c.934C>T	NP_001273059.1:p.Gln312Ter
NM_001297.5:c.952C>T MANE Select	NP_001288.3:p.Gln318Ter