Canonical Allele Identifier: CA2687825040

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632868-C-CCCAATAAATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632868_86632869insCCAATAAATAA , CM000670.2:g.86632868_86632869insCCAATAAATAA	GRCh38
NC_000008.10:g.87645096_87645097insCCAATAAATAA , CM000670.1:g.87645096_87645097insCCAATAAATAA	GRCh37
NC_000008.9:g.87714212_87714213insCCAATAAATAA	NCBI36
NG_016980.1:g.115807_115808insTTATTTATTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1203_1204insTTATTTATTGG MANE Select	ENSP00000316605.5:p.Val402LeufsTer8
ENST00000681546.1:n.1023_1024insTTATTTATTGG
ENST00000681746.1:c.1203_1204insTTATTTATTGG	ENSP00000505959.1:p.Val402LeufsTer8
ENST00000320005.5:c.1203_1204insTTATTTATTGG	ENSP00000316605.5:p.Val402LeufsTer8
NM_019098.4:c.1203_1204insTTATTTATTGG	NP_061971.3:p.Val402LeufsTer8
XM_011517138.1:c.789_790insTTATTTATTGG	XP_011515440.1:p.Val264LeufsTer8
XM_011517138.2:c.789_790insTTATTTATTGG	XP_011515440.1:p.Val264LeufsTer8
NM_019098.5:c.1203_1204insTTATTTATTGG MANE Select	NP_061971.3:p.Val402LeufsTer8