Canonical Allele Identifier: CA180875638

Gene: CNGB3

Linked Data

• dbSNP Id: rs765820938
• MyVariant Identifiers: chr8:g.87752028A>T (hg19) ; chr8:g.86739800A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739800A>T , CM000670.2:g.86739800A>T	GRCh38
NC_000008.10:g.87752028A>T , CM000670.1:g.87752028A>T	GRCh37
NC_000008.9:g.87821144A>T	NCBI36
NG_016980.1:g.8876T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-64T>A MANE Select	ENSP00000316605.5:n.130-64T>A
ENST00000681746.1:c.130-64T>A	ENSP00000505959.1:n.130-64T>A
ENST00000320005.5:c.130-64T>A	ENSP00000316605.5:n.130-64T>A
ENST00000519777.1:n.112-64T>A
NM_019098.4:c.130-64T>A	NP_061971.3:n.130-64T>A
NM_019098.5:c.130-64T>A MANE Select	NP_061971.3:n.130-64T>A