Canonical Allele Identifier: CA180328108

Gene: CNGB3

Linked Data

• dbSNP Id: rs951333046
• gnomAD v2: 8-87586395-G-A
• gnomAD v3: 8-86574167-G-A
• gnomAD v4: 8-86574167-G-A
• MyVariant Identifiers: chr8:g.87586395G>A (hg19) ; chr8:g.86574167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574167G>A , CM000670.2:g.86574167G>A	GRCh38
NC_000008.10:g.87586395G>A , CM000670.1:g.87586395G>A	GRCh37
NC_000008.9:g.87655511G>A	NCBI36
NG_016980.1:g.174509C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681746.1:c.*2478C>T	ENSP00000505959.1:n.*2478C>T
ENST00000320005.5:c.*1637C>T	ENSP00000316605.5:n.*1637C>T
ENST00000517327.5:c.276+4522C>T	ENSP00000428329.1:n.276+4522C>T
NM_019098.4:c.*1637C>T	NP_061971.3:n.*1637C>T
XM_011517138.1:c.*1637C>T	XP_011515440.1:n.*1637C>T
XM_011517138.2:c.*1637C>T	XP_011515440.1:n.*1637C>T