Canonical Allele Identifier: CA8083274

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320088
• ClinVar RCV Id: RCV000276667 ; RCV002061205
• dbSNP Id: rs751916833
• ExAC: 16:57953172 T / C
• gnomAD v2: 16-57953172-T-C
• gnomAD v3: 16-57919268-T-C
• gnomAD v4: 16-57919268-T-C
• MyVariant Identifiers: chr16:g.57953172T>C (hg19) ; chr16:g.57919268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57919268T>C , CM000678.2:g.57919268T>C	GRCh38
NC_000016.9:g.57953172T>C , CM000678.1:g.57953172T>C	GRCh37
NC_000016.8:g.56510673T>C	NCBI36
NG_016351.1:g.56849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.1802-14A>G MANE Select	ENSP00000251102.8:n.1802-14A>G
ENST00000251102.12:c.1802-14A>G	ENSP00000251102.8:n.1802-14A>G
ENST00000564448.5:c.1784-14A>G	ENSP00000454633.1:n.1784-14A>G
NM_001286130.1:c.1784-14A>G	NP_001273059.1:n.1784-14A>G
NM_001297.4:c.1802-14A>G	NP_001288.3:n.1802-14A>G
XM_006721134.2:c.1802-14A>G	XP_006721197.1:n.1802-14A>G
XM_011522870.1:c.653-14A>G	XP_011521172.1:n.653-14A>G
XR_933629.1:n.85+1726T>C
XM_011522870.2:c.653-14A>G	XP_011521172.1:n.653-14A>G
NM_001286130.2:c.1784-14A>G	NP_001273059.1:n.1784-14A>G
NM_001297.5:c.1802-14A>G MANE Select	NP_001288.3:n.1802-14A>G