Canonical Allele Identifier: CA2687828034

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86739870-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739870G>A , CM000670.2:g.86739870G>A	GRCh38
NC_000008.10:g.87752098G>A , CM000670.1:g.87752098G>A	GRCh37
NC_000008.9:g.87821214G>A	NCBI36
NG_016980.1:g.8806C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-134C>T MANE Select	ENSP00000316605.5:n.130-134C>T
ENST00000681746.1:c.130-134C>T	ENSP00000505959.1:n.130-134C>T
ENST00000320005.5:c.130-134C>T	ENSP00000316605.5:n.130-134C>T
ENST00000519777.1:n.112-134C>T
NM_019098.4:c.130-134C>T	NP_061971.3:n.130-134C>T
NM_019098.5:c.130-134C>T MANE Select	NP_061971.3:n.130-134C>T