Canonical Allele Identifier: CA4800359
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs762804298
ExAC: 8:87680376 G / T
gnomAD v2: 8-87680376-G-T
gnomAD v4: 8-86668148-G-T
MyVariant Identifiers: chr8:g.87680376G>T (hg19) chr8:g.86668148G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668148G>T , CM000670.2:g.86668148G>T GRCh38
NC_000008.10:g.87680376G>T , CM000670.1:g.87680376G>T GRCh37
NC_000008.9:g.87749492G>T NCBI36
NG_016980.1:g.80528C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.514C>A MANE Select ENSP00000316605.5:p.Pro172Thr
ENST00000681746.1:c.514C>A ENSP00000505959.1:p.Pro172Thr
ENST00000320005.5:c.514C>A ENSP00000316605.5:p.Pro172Thr
NM_019098.4:c.514C>A NP_061971.3:p.Pro172Thr
XM_011517138.1:c.100C>A XP_011515440.1:p.Pro34Thr
XM_011517138.2:c.100C>A XP_011515440.1:p.Pro34Thr
NM_019098.5:c.514C>A MANE Select NP_061971.3:p.Pro172Thr
Search 100 bp 5'
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