Canonical Allele Identifier: CA396063476

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 437971
• ClinVar RCV Id: RCV000504700 ; RCV001073841 ; RCV001384477
• dbSNP Id: rs1352458826
• gnomAD v2: 16-57950065-G-A
• gnomAD v3: 16-57916161-G-A
• gnomAD v4: 16-57916161-G-A
• COSMIC: COSM4673084
• MyVariant Identifiers: chr16:g.57950065G>A (hg19) ; chr16:g.57916161G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57916161G>A , CM000678.2:g.57916161G>A	GRCh38
NC_000016.9:g.57950065G>A , CM000678.1:g.57950065G>A	GRCh37
NC_000016.8:g.56507566G>A	NCBI36
NG_016351.1:g.59956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2185C>T MANE Select	ENSP00000251102.8:p.Arg729Ter
ENST00000251102.12:c.2185C>T	ENSP00000251102.8:p.Arg729Ter
ENST00000564448.5:c.2167C>T	ENSP00000454633.1:p.Arg723Ter
NM_001286130.1:c.2167C>T	NP_001273059.1:p.Arg723Ter
NM_001297.4:c.2185C>T	NP_001288.3:p.Arg729Ter
XM_006721134.2:c.2185C>T	XP_006721197.1:p.Arg729Ter
XM_011522870.1:c.1036C>T	XP_011521172.1:p.Arg346Ter
XM_011522870.2:c.1036C>T	XP_011521172.1:p.Arg346Ter
NM_001286130.2:c.2167C>T	NP_001273059.1:p.Arg723Ter
NM_001297.5:c.2185C>T MANE Select	NP_001288.3:p.Arg729Ter