Canonical Allele Identifier: CA462114159

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1092504
• ClinVar RCV Id: RCV001412366
• dbSNP Id: rs2131529311
• gnomAD v4: 8-86575927-T-A
• MyVariant Identifiers: chr8:g.87588155T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575927T>A , CM000670.2:g.86575927T>A	GRCh38
NC_000008.10:g.87588155T>A , CM000670.1:g.87588155T>A	GRCh37
NC_000008.9:g.87657271T>A	NCBI36
NG_016980.1:g.172749A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2307A>T MANE Select	ENSP00000316605.5:p.Ser769=
ENST00000681546.1:n.2127A>T
ENST00000681746.1:c.*718A>T	ENSP00000505959.1:n.*718A>T
ENST00000320005.5:c.2307A>T	ENSP00000316605.5:p.Ser769=
ENST00000517327.5:c.276+2762A>T	ENSP00000428329.1:n.276+2762A>T
NM_019098.4:c.2307A>T	NP_061971.3:p.Ser769=
XM_011517138.1:c.1893A>T	XP_011515440.1:p.Ser631=
XM_011517138.2:c.1893A>T	XP_011515440.1:p.Ser631=
NM_019098.5:c.2307A>T MANE Select	NP_061971.3:p.Ser769=