Canonical Allele Identifier: CA371446430

Gene: CNGB3

Linked Data

• dbSNP Id: rs1821653603
• MyVariant Identifiers: chr8:g.87588256C>A (hg19) ; chr8:g.86576028C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576028C>A , CM000670.2:g.86576028C>A	GRCh38
NC_000008.10:g.87588256C>A , CM000670.1:g.87588256C>A	GRCh37
NC_000008.9:g.87657372C>A	NCBI36
NG_016980.1:g.172648G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2206G>T MANE Select	ENSP00000316605.5:p.Glu736Ter
ENST00000681546.1:n.2026G>T
ENST00000681746.1:c.*617G>T	ENSP00000505959.1:n.*617G>T
ENST00000320005.5:c.2206G>T	ENSP00000316605.5:p.Glu736Ter
ENST00000517327.5:c.276+2661G>T	ENSP00000428329.1:n.276+2661G>T
NM_019098.4:c.2206G>T	NP_061971.3:p.Glu736Ter
XM_011517138.1:c.1792G>T	XP_011515440.1:p.Glu598Ter
XM_011517138.2:c.1792G>T	XP_011515440.1:p.Glu598Ter
NM_019098.5:c.2206G>T MANE Select	NP_061971.3:p.Glu736Ter