Canonical Allele Identifier: CA8082916

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 493184
• ClinVar RCV Id: RCV000585175 ; RCV001119757
• dbSNP Id: rs770961534
• ExAC: 16:57938669 C / T
• gnomAD v2: 16-57938669-C-T
• gnomAD v3: 16-57904765-C-T
• gnomAD v4: 16-57904765-C-T
• MyVariant Identifiers: chr16:g.57938669C>T (hg19) ; chr16:g.57904765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57904765C>T , CM000678.2:g.57904765C>T	GRCh38
NC_000016.9:g.57938669C>T , CM000678.1:g.57938669C>T	GRCh37
NC_000016.8:g.56496170C>T	NCBI36
NG_016351.1:g.71352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2603G>A MANE Select	ENSP00000251102.8:p.Gly868Asp
ENST00000251102.12:c.2603G>A	ENSP00000251102.8:p.Gly868Asp
ENST00000564448.5:c.2585G>A	ENSP00000454633.1:p.Gly862Asp
ENST00000569643.1:n.260G>A
NM_001286130.1:c.2585G>A	NP_001273059.1:p.Gly862Asp
NM_001297.4:c.2603G>A	NP_001288.3:p.Gly868Asp
XM_006721134.2:c.2603G>A	XP_006721197.1:p.Gly868Asp
XM_011522870.1:c.1454G>A	XP_011521172.1:p.Gly485Asp
XM_011522870.2:c.1454G>A	XP_011521172.1:p.Gly485Asp
NM_001286130.2:c.2585G>A	NP_001273059.1:p.Gly862Asp
NM_001297.5:c.2603G>A MANE Select	NP_001288.3:p.Gly868Asp