Canonical Allele Identifier: CA8083430

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320095
• ClinVar RCV Id: RCV000300738 ; RCV001522874 ; RCV003888757 ; RCV003969905
• dbSNP Id: rs2303783
• ExAC: 16:57965720 G / T
• gnomAD v2: 16-57965720-G-T
• gnomAD v3: 16-57931816-G-T
• gnomAD v4: 16-57931816-G-T
• MyVariant Identifiers: chr16:g.57965720G>T (hg19) ; chr16:g.57931816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57931816G>T , CM000678.2:g.57931816G>T	GRCh38
NC_000016.9:g.57965720G>T , CM000678.1:g.57965720G>T	GRCh37
NC_000016.8:g.56523221G>T	NCBI36
NG_016351.1:g.44301C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.1435C>A MANE Select	ENSP00000251102.8:p.Leu479Ile
ENST00000251102.12:c.1435C>A	ENSP00000251102.8:p.Leu479Ile
ENST00000564448.5:c.1417C>A	ENSP00000454633.1:p.Leu473Ile
ENST00000564450.1:n.120+7614C>A
ENST00000564654.1:n.824C>A
NM_001286130.1:c.1417C>A	NP_001273059.1:p.Leu473Ile
NM_001297.4:c.1435C>A	NP_001288.3:p.Leu479Ile
XM_006721134.2:c.1435C>A	XP_006721197.1:p.Leu479Ile
XM_011522870.1:c.286C>A	XP_011521172.1:p.Leu96Ile
XM_011522870.2:c.286C>A	XP_011521172.1:p.Leu96Ile
NM_001286130.2:c.1417C>A	NP_001273059.1:p.Leu473Ile
NM_001297.5:c.1435C>A MANE Select	NP_001288.3:p.Leu479Ile