Canonical Allele Identifier: CA2579200230

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86739836-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739836C>A , CM000670.2:g.86739836C>A	GRCh38
NC_000008.10:g.87752064C>A , CM000670.1:g.87752064C>A	GRCh37
NC_000008.9:g.87821180C>A	NCBI36
NG_016980.1:g.8840G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-100G>T MANE Select	ENSP00000316605.5:n.130-100G>T
ENST00000681746.1:c.130-100G>T	ENSP00000505959.1:n.130-100G>T
ENST00000320005.5:c.130-100G>T	ENSP00000316605.5:n.130-100G>T
ENST00000519777.1:n.112-100G>T
NM_019098.4:c.130-100G>T	NP_061971.3:n.130-100G>T
NM_019098.5:c.130-100G>T MANE Select	NP_061971.3:n.130-100G>T