Canonical Allele Identifier: CA371448078
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87660034A>T (hg19) chr8:g.86647806A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647806A>T , CM000670.2:g.86647806A>T GRCh38
NC_000008.10:g.87660034A>T , CM000670.1:g.87660034A>T GRCh37
NC_000008.9:g.87729150A>T NCBI36
NG_016980.1:g.100870T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.985T>A MANE Select ENSP00000316605.5:p.Leu329Ile
ENST00000681546.1:n.805T>A
ENST00000681746.1:c.985T>A ENSP00000505959.1:p.Leu329Ile
ENST00000320005.5:c.985T>A ENSP00000316605.5:p.Leu329Ile
NM_019098.4:c.985T>A NP_061971.3:p.Leu329Ile
XM_011517138.1:c.571T>A XP_011515440.1:p.Leu191Ile
XM_011517138.2:c.571T>A XP_011515440.1:p.Leu191Ile
NM_019098.5:c.985T>A MANE Select NP_061971.3:p.Leu329Ile
Search 100 bp 5'
Search 100 bp 3'