Canonical Allele Identifier: CA180875635

Gene: CNGB3

Linked Data

• dbSNP Id: rs368985257
• gnomAD v2: 8-87752016-G-T
• gnomAD v3: 8-86739788-G-T
• gnomAD v4: 8-86739788-G-T
• MyVariant Identifiers: chr8:g.87752016G>T (hg19) ; chr8:g.86739788G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739788G>T , CM000670.2:g.86739788G>T	GRCh38
NC_000008.10:g.87752016G>T , CM000670.1:g.87752016G>T	GRCh37
NC_000008.9:g.87821132G>T	NCBI36
NG_016980.1:g.8888C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-52C>A MANE Select	ENSP00000316605.5:n.130-52C>A
ENST00000681746.1:c.130-52C>A	ENSP00000505959.1:n.130-52C>A
ENST00000320005.5:c.130-52C>A	ENSP00000316605.5:n.130-52C>A
ENST00000519777.1:n.112-52C>A
NM_019098.4:c.130-52C>A	NP_061971.3:n.130-52C>A
NM_019098.5:c.130-52C>A MANE Select	NP_061971.3:n.130-52C>A