Canonical Allele Identifier: CA270081

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 143124
• ClinVar RCV Id: RCV000132646 ; RCV001207756 ; RCV002250572
• dbSNP Id: rs527236060
• ExAC: 16:57998386 C / G
• gnomAD v2: 16-57998386-C-G
• gnomAD v3: 16-57964482-C-G
• gnomAD v4: 16-57964482-C-G
• MyVariant Identifiers: chr16:g.57998386C>G (hg19) ; chr16:g.57964482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964482C>G , CM000678.2:g.57964482C>G	GRCh38
NC_000016.9:g.57998386C>G , CM000678.1:g.57998386C>G	GRCh37
NC_000016.8:g.56555887C>G	NCBI36
NG_016351.1:g.11635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.217+5G>C MANE Select	ENSP00000251102.8:n.217+5G>C
ENST00000251102.12:c.217+5G>C	ENSP00000251102.8:n.217+5G>C
ENST00000311183.8:c.217+5G>C	ENSP00000311670.4:n.217+5G>C
ENST00000562761.1:c.217+5G>C	ENSP00000455708.1:n.217+5G>C
ENST00000564448.5:c.217+5G>C	ENSP00000454633.1:n.217+5G>C
ENST00000567568.1:n.275+5G>C
NM_001135639.1:c.217+5G>C	NP_001129111.1:n.217+5G>C
NM_001286130.1:c.217+5G>C	NP_001273059.1:n.217+5G>C
NM_001297.4:c.217+5G>C	NP_001288.3:n.217+5G>C
XM_006721134.2:c.217+5G>C	XP_006721197.1:n.217+5G>C
NM_001135639.2:c.217+5G>C	NP_001129111.1:n.217+5G>C
NM_001286130.2:c.217+5G>C	NP_001273059.1:n.217+5G>C
NM_001297.5:c.217+5G>C MANE Select	NP_001288.3:n.217+5G>C