Canonical Allele Identifier: CA371446382

Gene: CNGB3

Linked Data

• dbSNP Id: rs1821650546
• gnomAD v3: 8-86576009-T-A
• gnomAD v4: 8-86576009-T-A
• MyVariant Identifiers: chr8:g.87588237T>A (hg19) ; chr8:g.86576009T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576009T>A , CM000670.2:g.86576009T>A	GRCh38
NC_000008.10:g.87588237T>A , CM000670.1:g.87588237T>A	GRCh37
NC_000008.9:g.87657353T>A	NCBI36
NG_016980.1:g.172667A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2225A>T MANE Select	ENSP00000316605.5:p.Lys742Ile
ENST00000681546.1:n.2045A>T
ENST00000681746.1:c.*636A>T	ENSP00000505959.1:n.*636A>T
ENST00000320005.5:c.2225A>T	ENSP00000316605.5:p.Lys742Ile
ENST00000517327.5:c.276+2680A>T	ENSP00000428329.1:n.276+2680A>T
NM_019098.4:c.2225A>T	NP_061971.3:p.Lys742Ile
XM_011517138.1:c.1811A>T	XP_011515440.1:p.Lys604Ile
XM_011517138.2:c.1811A>T	XP_011515440.1:p.Lys604Ile
NM_019098.5:c.2225A>T MANE Select	NP_061971.3:p.Lys742Ile