Canonical Allele Identifier: CA622693098

Gene: CNGB1

Linked Data

• dbSNP Id: rs1410121652
• gnomAD v2: 16-57997985-T-TA
• gnomAD v4: 16-57964081-T-TA
• MyVariant Identifiers: chr16:g.57997985_57997986insA (hg19) ; chr16:g.57964081_57964082insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964082dup , CM000678.2:g.57964082dup	GRCh38
NC_000016.9:g.57997986dup , CM000678.1:g.57997986dup	GRCh37
NC_000016.8:g.56555487dup	NCBI36
NG_016351.1:g.12035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.290+48dup MANE Select	ENSP00000251102.8:n.290+48dup
ENST00000251102.12:c.290+48dup	ENSP00000251102.8:n.290+48dup
ENST00000311183.8:c.290+48dup	ENSP00000311670.4:n.290+48dup
ENST00000562761.1:c.290+48dup	ENSP00000455708.1:n.290+48dup
ENST00000564448.5:c.290+48dup	ENSP00000454633.1:n.290+48dup
ENST00000567568.1:n.396dup
NM_001135639.1:c.290+48dup	NP_001129111.1:n.290+48dup
NM_001286130.1:c.290+48dup	NP_001273059.1:n.290+48dup
NM_001297.4:c.290+48dup	NP_001288.3:n.290+48dup
XM_006721134.2:c.290+48dup	XP_006721197.1:n.290+48dup
NM_001135639.2:c.290+48dup	NP_001129111.1:n.290+48dup
NM_001286130.2:c.290+48dup	NP_001273059.1:n.290+48dup
NM_001297.5:c.290+48dup MANE Select	NP_001288.3:n.290+48dup