Canonical Allele Identifier: CA4800185

Gene: CNGB3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86644689A>G , CM000670.2:g.86644689A>G	GRCh38
NC_000008.10:g.87656917A>G , CM000670.1:g.87656917A>G	GRCh37
NC_000008.9:g.87726033A>G	NCBI36
NG_016980.1:g.103987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.991-3T>C MANE Select	ENSP00000316605.5:n.991-3T>C
ENST00000681546.1:n.811-3T>C
ENST00000681746.1:c.991-3T>C	ENSP00000505959.1:n.991-3T>C
ENST00000320005.5:c.991-3T>C	ENSP00000316605.5:n.991-3T>C
NM_019098.4:c.991-3T>C	NP_061971.3:n.991-3T>C
XM_011517138.1:c.577-3T>C	XP_011515440.1:n.577-3T>C
XM_011517138.2:c.577-3T>C	XP_011515440.1:n.577-3T>C
NM_019098.5:c.991-3T>C MANE Select	NP_061971.3:n.991-3T>C