Canonical Allele Identifier: CA582905904

Gene: CNGB3

Linked Data

• dbSNP Id: rs1313092435
• gnomAD v2: 8-87586721-C-T
• gnomAD v3: 8-86574493-C-T
• gnomAD v4: 8-86574493-C-T
• MyVariant Identifiers: chr8:g.87586721C>T (hg19) ; chr8:g.86574493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574493C>T , CM000670.2:g.86574493C>T	GRCh38
NC_000008.10:g.87586721C>T , CM000670.1:g.87586721C>T	GRCh37
NC_000008.9:g.87655837C>T	NCBI36
NG_016980.1:g.174183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*1311G>A MANE Select	ENSP00000316605.5:n.*1311G>A
ENST00000681546.1:n.3561G>A
ENST00000681746.1:c.*2152G>A	ENSP00000505959.1:n.*2152G>A
ENST00000320005.5:c.*1311G>A	ENSP00000316605.5:n.*1311G>A
ENST00000517327.5:c.276+4196G>A	ENSP00000428329.1:n.276+4196G>A
NM_019098.4:c.*1311G>A	NP_061971.3:n.*1311G>A
XM_011517138.1:c.*1311G>A	XP_011515440.1:n.*1311G>A
XM_011517138.2:c.*1311G>A	XP_011515440.1:n.*1311G>A
NM_019098.5:c.*1311G>A MANE Select	NP_061971.3:n.*1311G>A