Canonical Allele Identifier: CA371446055

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86575851-C-A
• MyVariant Identifiers: chr8:g.87588079C>A (hg19) ; chr8:g.86575851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575851C>A , CM000670.2:g.86575851C>A	GRCh38
NC_000008.10:g.87588079C>A , CM000670.1:g.87588079C>A	GRCh37
NC_000008.9:g.87657195C>A	NCBI36
NG_016980.1:g.172825G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2383G>T MANE Select	ENSP00000316605.5:p.Gly795Ter
ENST00000681546.1:n.2203G>T
ENST00000681746.1:c.*794G>T	ENSP00000505959.1:n.*794G>T
ENST00000320005.5:c.2383G>T	ENSP00000316605.5:p.Gly795Ter
ENST00000517327.5:c.276+2838G>T	ENSP00000428329.1:n.276+2838G>T
NM_019098.4:c.2383G>T	NP_061971.3:p.Gly795Ter
XM_011517138.1:c.1969G>T	XP_011515440.1:p.Gly657Ter
XM_011517138.2:c.1969G>T	XP_011515440.1:p.Gly657Ter
NM_019098.5:c.2383G>T MANE Select	NP_061971.3:p.Gly795Ter