Canonical Allele Identifier: CA2580078987

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2018563
• ClinVar RCV Id: RCV002862078

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86578869G>A , CM000670.2:g.86578869G>A	GRCh38
NC_000008.10:g.87591097G>A , CM000670.1:g.87591097G>A	GRCh37
NC_000008.9:g.87660213G>A	NCBI36
NG_016980.1:g.169807C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1929-6C>T MANE Select	ENSP00000316605.5:n.1929-6C>T
ENST00000681546.1:n.1749-6C>T
ENST00000681746.1:c.*340-6C>T	ENSP00000505959.1:n.*340-6C>T
ENST00000320005.5:c.1929-6C>T	ENSP00000316605.5:n.1929-6C>T
ENST00000517327.5:c.102-6C>T	ENSP00000428329.1:n.102-6C>T
NM_019098.4:c.1929-6C>T	NP_061971.3:n.1929-6C>T
XM_011517138.1:c.1515-6C>T	XP_011515440.1:n.1515-6C>T
XM_011517138.2:c.1515-6C>T	XP_011515440.1:n.1515-6C>T
NM_019098.5:c.1929-6C>T MANE Select	NP_061971.3:n.1929-6C>T