Canonical Allele Identifier: CA461831310
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683323T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671095T>A , CM000670.2:g.86671095T>A GRCh38
NC_000008.10:g.87683323T>A , CM000670.1:g.87683323T>A GRCh37
NC_000008.9:g.87752439T>A NCBI36
NG_016980.1:g.77581A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.342A>T MANE Select ENSP00000316605.5:p.Pro114=
ENST00000680314.1:n.103A>T
ENST00000681746.1:c.342A>T ENSP00000505959.1:p.Pro114=
ENST00000320005.5:c.342A>T ENSP00000316605.5:p.Pro114=
NM_019098.4:c.342A>T NP_061971.3:p.Pro114=
XM_011517138.1:c.-73A>T XP_011515440.1:n.-73A>T
XM_011517138.2:c.-73A>T XP_011515440.1:n.-73A>T
NM_019098.5:c.342A>T MANE Select NP_061971.3:p.Pro114=