Canonical Allele Identifier: CA461815823
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87656029G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643801G>A , CM000670.2:g.86643801G>A GRCh38
NC_000008.10:g.87656029G>A , CM000670.1:g.87656029G>A GRCh37
NC_000008.9:g.87725145G>A NCBI36
NG_016980.1:g.104875C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1128C>T MANE Select ENSP00000316605.5:p.Asn376=
ENST00000681546.1:n.948C>T
ENST00000681746.1:c.1128C>T ENSP00000505959.1:p.Asn376=
ENST00000320005.5:c.1128C>T ENSP00000316605.5:p.Asn376=
NM_019098.4:c.1128C>T NP_061971.3:p.Asn376=
XM_011517138.1:c.714C>T XP_011515440.1:p.Asn238=
XM_011517138.2:c.714C>T XP_011515440.1:p.Asn238=
NM_019098.5:c.1128C>T MANE Select NP_061971.3:p.Asn376=