Canonical Allele Identifier: CA461831275
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683271G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671043G>A , CM000670.2:g.86671043G>A GRCh38
NC_000008.10:g.87683271G>A , CM000670.1:g.87683271G>A GRCh37
NC_000008.9:g.87752387G>A NCBI36
NG_016980.1:g.77633C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.394C>T MANE Select ENSP00000316605.5:p.Leu132=
ENST00000680314.1:n.155C>T
ENST00000681746.1:c.394C>T ENSP00000505959.1:p.Leu132=
ENST00000320005.5:c.394C>T ENSP00000316605.5:p.Leu132=
NM_019098.4:c.394C>T NP_061971.3:p.Leu132=
XM_011517138.1:c.-21C>T XP_011515440.1:n.-21C>T
XM_011517138.2:c.-21C>T XP_011515440.1:n.-21C>T
NM_019098.5:c.394C>T MANE Select NP_061971.3:p.Leu132=