Canonical Allele Identifier: CA371449704
Gene: CNGB3 HGNC NCBI

Linked Data

COSMIC: COSM365900
MyVariant Identifiers: chr8:g.87680253A>T (hg19) chr8:g.86668025A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668025A>T , CM000670.2:g.86668025A>T GRCh38
NC_000008.10:g.87680253A>T , CM000670.1:g.87680253A>T GRCh37
NC_000008.9:g.87749369A>T NCBI36
NG_016980.1:g.80651T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.637T>A MANE Select ENSP00000316605.5:p.Tyr213Asn
ENST00000681746.1:c.637T>A ENSP00000505959.1:p.Tyr213Asn
ENST00000320005.5:c.637T>A ENSP00000316605.5:p.Tyr213Asn
NM_019098.4:c.637T>A NP_061971.3:p.Tyr213Asn
XM_011517138.1:c.223T>A XP_011515440.1:p.Tyr75Asn
XM_011517138.2:c.223T>A XP_011515440.1:p.Tyr75Asn
NM_019098.5:c.637T>A MANE Select NP_061971.3:p.Tyr213Asn
Search 100 bp 5'
Search 100 bp 3'