Canonical Allele Identifier: CA240054

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 194195
• ClinVar RCV Id: RCV000320799 ; RCV000723993
• dbSNP Id: rs146170855
• ExAC: 16:57984441 C / T
• gnomAD v2: 16-57984441-C-T
• gnomAD v3: 16-57950537-C-T
• gnomAD v4: 16-57950537-C-T
• MyVariant Identifiers: chr16:g.57984441C>T (hg19) ; chr16:g.57950537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57950537C>T , CM000678.2:g.57950537C>T	GRCh38
NC_000016.9:g.57984441C>T , CM000678.1:g.57984441C>T	GRCh37
NC_000016.8:g.56541942C>T	NCBI36
NG_016351.1:g.25580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.878G>A MANE Select	ENSP00000251102.8:p.Ser293Asn
ENST00000251102.12:c.878G>A	ENSP00000251102.8:p.Ser293Asn
ENST00000564448.5:c.860G>A	ENSP00000454633.1:p.Ser287Asn
NM_001286130.1:c.860G>A	NP_001273059.1:p.Ser287Asn
NM_001297.4:c.878G>A	NP_001288.3:p.Ser293Asn
XM_006721134.2:c.878G>A	XP_006721197.1:p.Ser293Asn
NM_001286130.2:c.860G>A	NP_001273059.1:p.Ser287Asn
NM_001297.5:c.878G>A MANE Select	NP_001288.3:p.Ser293Asn