Canonical Allele Identifier: CA582916718

Gene: CNGB3

Linked Data

• dbSNP Id: rs1315052597
• gnomAD v2: 8-87655951-A-G
• gnomAD v4: 8-86643723-A-G
• MyVariant Identifiers: chr8:g.87655951A>G (hg19) ; chr8:g.86643723A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643723A>G , CM000670.2:g.86643723A>G	GRCh38
NC_000008.10:g.87655951A>G , CM000670.1:g.87655951A>G	GRCh37
NC_000008.9:g.87725067A>G	NCBI36
NG_016980.1:g.104953T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+28T>C MANE Select	ENSP00000316605.5:n.1178+28T>C
ENST00000681546.1:n.998+28T>C
ENST00000681746.1:c.1178+28T>C	ENSP00000505959.1:n.1178+28T>C
ENST00000320005.5:c.1178+28T>C	ENSP00000316605.5:n.1178+28T>C
NM_019098.4:c.1178+28T>C	NP_061971.3:n.1178+28T>C
XM_011517138.1:c.764+28T>C	XP_011515440.1:n.764+28T>C
XM_011517138.2:c.764+28T>C	XP_011515440.1:n.764+28T>C
NM_019098.5:c.1178+28T>C MANE Select	NP_061971.3:n.1178+28T>C