Canonical Allele Identifier: CA371444571
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645119T>C (hg19) chr8:g.86632891T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632891T>C , CM000670.2:g.86632891T>C GRCh38
NC_000008.10:g.87645119T>C , CM000670.1:g.87645119T>C GRCh37
NC_000008.9:g.87714235T>C NCBI36
NG_016980.1:g.115785A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1181A>G MANE Select ENSP00000316605.5:p.Tyr394Cys
ENST00000681546.1:n.1001A>G
ENST00000681746.1:c.1181A>G ENSP00000505959.1:p.Tyr394Cys
ENST00000320005.5:c.1181A>G ENSP00000316605.5:p.Tyr394Cys
NM_019098.4:c.1181A>G NP_061971.3:p.Tyr394Cys
XM_011517138.1:c.767A>G XP_011515440.1:p.Tyr256Cys
XM_011517138.2:c.767A>G XP_011515440.1:p.Tyr256Cys
NM_019098.5:c.1181A>G MANE Select NP_061971.3:p.Tyr394Cys
Search 100 bp 5'
Search 100 bp 3'