Canonical Allele Identifier: CA583366075

Gene: CNGB3

Linked Data

• dbSNP Id: rs1365373464
• gnomAD v2: 8-87591113-T-C
• gnomAD v3: 8-86578885-T-C
• gnomAD v4: 8-86578885-T-C
• MyVariant Identifiers: chr8:g.87591113T>C (hg19) ; chr8:g.86578885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86578885T>C , CM000670.2:g.86578885T>C	GRCh38
NC_000008.10:g.87591113T>C , CM000670.1:g.87591113T>C	GRCh37
NC_000008.9:g.87660229T>C	NCBI36
NG_016980.1:g.169791A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1929-22A>G MANE Select	ENSP00000316605.5:n.1929-22A>G
ENST00000681546.1:n.1749-22A>G
ENST00000681746.1:c.*340-22A>G	ENSP00000505959.1:n.*340-22A>G
ENST00000320005.5:c.1929-22A>G	ENSP00000316605.5:n.1929-22A>G
ENST00000517327.5:c.102-22A>G	ENSP00000428329.1:n.102-22A>G
NM_019098.4:c.1929-22A>G	NP_061971.3:n.1929-22A>G
XM_011517138.1:c.1515-22A>G	XP_011515440.1:n.1515-22A>G
XM_011517138.2:c.1515-22A>G	XP_011515440.1:n.1515-22A>G
NM_019098.5:c.1929-22A>G MANE Select	NP_061971.3:n.1929-22A>G