Canonical Allele Identifier: CA180875621

Gene: CNGB3

Linked Data

• dbSNP Id: rs144976758
• gnomAD v2: 8-87751784-C-T
• gnomAD v3: 8-86739556-C-T
• gnomAD v4: 8-86739556-C-T
• MyVariant Identifiers: chr8:g.87751784C>T (hg19) ; chr8:g.86739556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739556C>T , CM000670.2:g.86739556C>T	GRCh38
NC_000008.10:g.87751784C>T , CM000670.1:g.87751784C>T	GRCh37
NC_000008.9:g.87820900C>T	NCBI36
NG_016980.1:g.9120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.211+99G>A MANE Select	ENSP00000316605.5:n.211+99G>A
ENST00000681746.1:c.211+99G>A	ENSP00000505959.1:n.211+99G>A
ENST00000320005.5:c.211+99G>A	ENSP00000316605.5:n.211+99G>A
ENST00000519777.1:n.193+99G>A
NM_019098.4:c.211+99G>A	NP_061971.3:n.211+99G>A
NM_019098.5:c.211+99G>A MANE Select	NP_061971.3:n.211+99G>A