Canonical Allele Identifier: CA461978615
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87751914G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739686G>A , CM000670.2:g.86739686G>A GRCh38
NC_000008.10:g.87751914G>A , CM000670.1:g.87751914G>A GRCh37
NC_000008.9:g.87821030G>A NCBI36
NG_016980.1:g.8990C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.180C>T MANE Select ENSP00000316605.5:p.Val60=
ENST00000681746.1:c.180C>T ENSP00000505959.1:p.Val60=
ENST00000320005.5:c.180C>T ENSP00000316605.5:p.Val60=
ENST00000519777.1:n.162C>T
NM_019098.4:c.180C>T NP_061971.3:p.Val60=
NM_019098.5:c.180C>T MANE Select NP_061971.3:p.Val60=