Canonical Allele Identifier: CA461831305
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683308A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671080A>T , CM000670.2:g.86671080A>T GRCh38
NC_000008.10:g.87683308A>T , CM000670.1:g.87683308A>T GRCh37
NC_000008.9:g.87752424A>T NCBI36
NG_016980.1:g.77596T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.357T>A MANE Select ENSP00000316605.5:p.Pro119=
ENST00000680314.1:n.118T>A
ENST00000681746.1:c.357T>A ENSP00000505959.1:p.Pro119=
ENST00000320005.5:c.357T>A ENSP00000316605.5:p.Pro119=
NM_019098.4:c.357T>A NP_061971.3:p.Pro119=
XM_011517138.1:c.-58T>A XP_011515440.1:n.-58T>A
XM_011517138.2:c.-58T>A XP_011515440.1:n.-58T>A
NM_019098.5:c.357T>A MANE Select NP_061971.3:p.Pro119=