Canonical Allele Identifier: CA4800334
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs557864352
ExAC: 8:87680257 A / C
gnomAD v2: 8-87680257-A-C
gnomAD v3: 8-86668029-A-C
gnomAD v4: 8-86668029-A-C
MyVariant Identifiers: chr8:g.87680257A>C (hg19) chr8:g.86668029A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668029A>C , CM000670.2:g.86668029A>C GRCh38
NC_000008.10:g.87680257A>C , CM000670.1:g.87680257A>C GRCh37
NC_000008.9:g.87749373A>C NCBI36
NG_016980.1:g.80647T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.633T>G MANE Select ENSP00000316605.5:p.Asp211Glu
ENST00000681746.1:c.633T>G ENSP00000505959.1:p.Asp211Glu
ENST00000320005.5:c.633T>G ENSP00000316605.5:p.Asp211Glu
NM_019098.4:c.633T>G NP_061971.3:p.Asp211Glu
XM_011517138.1:c.219T>G XP_011515440.1:p.Asp73Glu
XM_011517138.2:c.219T>G XP_011515440.1:p.Asp73Glu
NM_019098.5:c.633T>G MANE Select NP_061971.3:p.Asp211Glu
Search 100 bp 5'
Search 100 bp 3'