Canonical Allele Identifier: CA371456822
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739738-T-G
MyVariant Identifiers: chr8:g.87751966T>G (hg19) chr8:g.86739738T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739738T>G , CM000670.2:g.86739738T>G GRCh38
NC_000008.10:g.87751966T>G , CM000670.1:g.87751966T>G GRCh37
NC_000008.9:g.87821082T>G NCBI36
NG_016980.1:g.8938A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-2A>C MANE Select ENSP00000316605.5:n.130-2A>C
ENST00000681746.1:c.130-2A>C ENSP00000505959.1:n.130-2A>C
ENST00000320005.5:c.130-2A>C ENSP00000316605.5:n.130-2A>C
ENST00000519777.1:n.112-2A>C
NM_019098.4:c.130-2A>C NP_061971.3:n.130-2A>C
NM_019098.5:c.130-2A>C MANE Select NP_061971.3:n.130-2A>C
Search 100 bp 5'
Search 100 bp 3'