Canonical Allele Identifier: CA371446534
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1178410869
gnomAD v2: 8-87588298-C-A
gnomAD v4: 8-86576070-C-A
COSMIC: COSM3835093
MyVariant Identifiers: chr8:g.87588298C>A (hg19) chr8:g.87588298_87588302delinsATTTT (hg19) chr8:g.86576070C>A (hg38) chr8:g.86576070_86576074delinsATTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576070C>A , CM000670.2:g.86576070C>A GRCh38
NC_000008.10:g.87588298C>A , CM000670.1:g.87588298C>A GRCh37
NC_000008.9:g.87657414C>A NCBI36
NG_016980.1:g.172606G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2164G>T MANE Select ENSP00000316605.5:p.Glu722Ter
ENST00000681546.1:n.1984G>T
ENST00000681746.1:c.*575G>T ENSP00000505959.1:n.*575G>T
ENST00000320005.5:c.2164G>T ENSP00000316605.5:p.Glu722Ter
ENST00000517327.5:c.276+2619G>T ENSP00000428329.1:n.276+2619G>T
NM_019098.4:c.2164G>T NP_061971.3:p.Glu722Ter
XM_011517138.1:c.1750G>T XP_011515440.1:p.Glu584Ter
XM_011517138.2:c.1750G>T XP_011515440.1:p.Glu584Ter
NM_019098.5:c.2164G>T MANE Select NP_061971.3:p.Glu722Ter
Search 100 bp 5'
Search 100 bp 3'