Canonical Allele Identifier: CA461815805
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1823237265
MyVariant Identifiers: chr8:g.87655999C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643771C>T , CM000670.2:g.86643771C>T GRCh38
NC_000008.10:g.87655999C>T , CM000670.1:g.87655999C>T GRCh37
NC_000008.9:g.87725115C>T NCBI36
NG_016980.1:g.104905G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1158G>A MANE Select ENSP00000316605.5:p.Val386=
ENST00000681546.1:n.978G>A
ENST00000681746.1:c.1158G>A ENSP00000505959.1:p.Val386=
ENST00000320005.5:c.1158G>A ENSP00000316605.5:p.Val386=
NM_019098.4:c.1158G>A NP_061971.3:p.Val386=
XM_011517138.1:c.744G>A XP_011515440.1:p.Val248=
XM_011517138.2:c.744G>A XP_011515440.1:p.Val248=
NM_019098.5:c.1158G>A MANE Select NP_061971.3:p.Val386=
Search 100 bp 5'
Search 100 bp 3'