Canonical Allele Identifier: CA180341081

Gene: CNGB3

Linked Data

• dbSNP Id: rs1029991068
• gnomAD v3: 8-86633115-C-T
• gnomAD v4: 8-86633115-C-T
• MyVariant Identifiers: chr8:g.87645343C>T (hg19) ; chr8:g.86633115C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86633115C>T , CM000670.2:g.86633115C>T	GRCh38
NC_000008.10:g.87645343C>T , CM000670.1:g.87645343C>T	GRCh37
NC_000008.9:g.87714459C>T	NCBI36
NG_016980.1:g.115561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179-222G>A MANE Select	ENSP00000316605.5:n.1179-222G>A
ENST00000681546.1:n.999-222G>A
ENST00000681746.1:c.1179-222G>A	ENSP00000505959.1:n.1179-222G>A
ENST00000320005.5:c.1179-222G>A	ENSP00000316605.5:n.1179-222G>A
NM_019098.4:c.1179-222G>A	NP_061971.3:n.1179-222G>A
XM_011517138.1:c.765-222G>A	XP_011515440.1:n.765-222G>A
XM_011517138.2:c.765-222G>A	XP_011515440.1:n.765-222G>A
NM_019098.5:c.1179-222G>A MANE Select	NP_061971.3:n.1179-222G>A