Canonical Allele Identifier: CA371446417

Gene: CNGB3

Linked Data

• dbSNP Id: rs1466372683
• gnomAD v2: 8-87588250-C-T
• gnomAD v4: 8-86576022-C-T
• MyVariant Identifiers: chr8:g.87588250C>T (hg19) ; chr8:g.86576022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576022C>T , CM000670.2:g.86576022C>T	GRCh38
NC_000008.10:g.87588250C>T , CM000670.1:g.87588250C>T	GRCh37
NC_000008.9:g.87657366C>T	NCBI36
NG_016980.1:g.172654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2212G>A MANE Select	ENSP00000316605.5:p.Glu738Lys
ENST00000681546.1:n.2032G>A
ENST00000681746.1:c.*623G>A	ENSP00000505959.1:n.*623G>A
ENST00000320005.5:c.2212G>A	ENSP00000316605.5:p.Glu738Lys
ENST00000517327.5:c.276+2667G>A	ENSP00000428329.1:n.276+2667G>A
NM_019098.4:c.2212G>A	NP_061971.3:p.Glu738Lys
XM_011517138.1:c.1798G>A	XP_011515440.1:p.Glu600Lys
XM_011517138.2:c.1798G>A	XP_011515440.1:p.Glu600Lys
NM_019098.5:c.2212G>A MANE Select	NP_061971.3:p.Glu738Lys