Canonical Allele Identifier: CA2687825542

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86647698-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647698T>A , CM000670.2:g.86647698T>A	GRCh38
NC_000008.10:g.87659926T>A , CM000670.1:g.87659926T>A	GRCh37
NC_000008.9:g.87729042T>A	NCBI36
NG_016980.1:g.100978A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.990+103A>T MANE Select	ENSP00000316605.5:n.990+103A>T
ENST00000681546.1:n.810+103A>T
ENST00000681746.1:c.990+103A>T	ENSP00000505959.1:n.990+103A>T
ENST00000320005.5:c.990+103A>T	ENSP00000316605.5:n.990+103A>T
NM_019098.4:c.990+103A>T	NP_061971.3:n.990+103A>T
XM_011517138.1:c.576+103A>T	XP_011515440.1:n.576+103A>T
XM_011517138.2:c.576+103A>T	XP_011515440.1:n.576+103A>T
NM_019098.5:c.990+103A>T MANE Select	NP_061971.3:n.990+103A>T