Canonical Allele Identifier: CA16620218

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 420589
• ClinVar RCV Id: RCV000483160 ; RCV001294190
• dbSNP Id: rs1064794573
• gnomAD v2: 16-57938764-G-T
• gnomAD v3: 16-57904860-G-T
• gnomAD v4: 16-57904860-G-T
• MyVariant Identifiers: chr16:g.57938764G>T (hg19) ; chr16:g.57904860G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57904860G>T , CM000678.2:g.57904860G>T	GRCh38
NC_000016.9:g.57938764G>T , CM000678.1:g.57938764G>T	GRCh37
NC_000016.8:g.56496265G>T	NCBI36
NG_016351.1:g.71257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2508C>A MANE Select	ENSP00000251102.8:p.Tyr836Ter
ENST00000251102.12:c.2508C>A	ENSP00000251102.8:p.Tyr836Ter
ENST00000564448.5:c.2490C>A	ENSP00000454633.1:p.Tyr830Ter
ENST00000569643.1:n.165C>A
NM_001286130.1:c.2490C>A	NP_001273059.1:p.Tyr830Ter
NM_001297.4:c.2508C>A	NP_001288.3:p.Tyr836Ter
XM_006721134.2:c.2508C>A	XP_006721197.1:p.Tyr836Ter
XM_011522870.1:c.1359C>A	XP_011521172.1:p.Tyr453Ter
XM_011522870.2:c.1359C>A	XP_011521172.1:p.Tyr453Ter
NM_001286130.2:c.2490C>A	NP_001273059.1:p.Tyr830Ter
NM_001297.5:c.2508C>A MANE Select	NP_001288.3:p.Tyr836Ter