Canonical Allele Identifier: CA8083661

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 493186
• ClinVar RCV Id: RCV000584837 ; RCV000625379 ; RCV001118433 ; RCV001706680 ; RCV003945371
• dbSNP Id: rs375539469
• ExAC: 16:57991285 C / A
• gnomAD v2: 16-57991285-C-A
• gnomAD v3: 16-57957381-C-A
• gnomAD v4: 16-57957381-C-A
• MyVariant Identifiers: chr16:g.57991285C>A (hg19) ; chr16:g.57957381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57957381C>A , CM000678.2:g.57957381C>A	GRCh38
NC_000016.9:g.57991285C>A , CM000678.1:g.57991285C>A	GRCh37
NC_000016.8:g.56548786C>A	NCBI36
NG_016351.1:g.18736G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.838-4G>T MANE Select	ENSP00000251102.8:n.838-4G>T
ENST00000251102.12:c.838-4G>T	ENSP00000251102.8:n.838-4G>T
ENST00000311183.8:c.838-4G>T	ENSP00000311670.4:n.838-4G>T
ENST00000564448.5:c.820-4G>T	ENSP00000454633.1:n.820-4G>T
NM_001135639.1:c.838-4G>T	NP_001129111.1:n.838-4G>T
NM_001286130.1:c.820-4G>T	NP_001273059.1:n.820-4G>T
NM_001297.4:c.838-4G>T	NP_001288.3:n.838-4G>T
XM_006721134.2:c.838-4G>T	XP_006721197.1:n.838-4G>T
NM_001135639.2:c.838-4G>T	NP_001129111.1:n.838-4G>T
NM_001286130.2:c.820-4G>T	NP_001273059.1:n.820-4G>T
NM_001297.5:c.838-4G>T MANE Select	NP_001288.3:n.838-4G>T