Canonical Allele Identifier: CA4799776
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs377050872
ExAC: 8:87588262 C / G
gnomAD v2: 8-87588262-C-G
gnomAD v3: 8-86576034-C-G
gnomAD v4: 8-86576034-C-G
MyVariant Identifiers: chr8:g.87588262C>G (hg19) chr8:g.87588262_87588283delinsGTTTATCTTCATTTTCTTTTTG (hg19) chr8:g.86576034C>G (hg38) chr8:g.86576034_86576055delinsGTTTATCTTCATTTTCTTTTTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576034C>G , CM000670.2:g.86576034C>G GRCh38
NC_000008.10:g.87588262C>G , CM000670.1:g.87588262C>G GRCh37
NC_000008.9:g.87657378C>G NCBI36
NG_016980.1:g.172642G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2200G>C MANE Select ENSP00000316605.5:p.Gly734Arg
ENST00000681546.1:n.2020G>C
ENST00000681746.1:c.*611G>C ENSP00000505959.1:n.*611G>C
ENST00000320005.5:c.2200G>C ENSP00000316605.5:p.Gly734Arg
ENST00000517327.5:c.276+2655G>C ENSP00000428329.1:n.276+2655G>C
NM_019098.4:c.2200G>C NP_061971.3:p.Gly734Arg
XM_011517138.1:c.1786G>C XP_011515440.1:p.Gly596Arg
XM_011517138.2:c.1786G>C XP_011515440.1:p.Gly596Arg
NM_019098.5:c.2200G>C MANE Select NP_061971.3:p.Gly734Arg
Search 100 bp 5'
Search 100 bp 3'