Canonical Allele Identifier: CA180875618

Gene: CNGB3

Linked Data

• dbSNP Id: rs149959689
• gnomAD v2: 8-87751771-C-G
• gnomAD v3: 8-86739543-C-G
• gnomAD v4: 8-86739543-C-G
• MyVariant Identifiers: chr8:g.87751771C>G (hg19) ; chr8:g.86739543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739543C>G , CM000670.2:g.86739543C>G	GRCh38
NC_000008.10:g.87751771C>G , CM000670.1:g.87751771C>G	GRCh37
NC_000008.9:g.87820887C>G	NCBI36
NG_016980.1:g.9133G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.211+112G>C MANE Select	ENSP00000316605.5:n.211+112G>C
ENST00000681746.1:c.211+112G>C	ENSP00000505959.1:n.211+112G>C
ENST00000320005.5:c.211+112G>C	ENSP00000316605.5:n.211+112G>C
ENST00000519777.1:n.193+112G>C
NM_019098.4:c.211+112G>C	NP_061971.3:n.211+112G>C
NM_019098.5:c.211+112G>C MANE Select	NP_061971.3:n.211+112G>C