Canonical Allele Identifier: CA461831313
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683326G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671098G>A , CM000670.2:g.86671098G>A GRCh38
NC_000008.10:g.87683326G>A , CM000670.1:g.87683326G>A GRCh37
NC_000008.9:g.87752442G>A NCBI36
NG_016980.1:g.77578C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339C>T MANE Select ENSP00000316605.5:p.Ser113=
ENST00000680314.1:n.100C>T
ENST00000681746.1:c.339C>T ENSP00000505959.1:p.Ser113=
ENST00000320005.5:c.339C>T ENSP00000316605.5:p.Ser113=
NM_019098.4:c.339C>T NP_061971.3:p.Ser113=
XM_011517138.1:c.-76C>T XP_011515440.1:n.-76C>T
XM_011517138.2:c.-76C>T XP_011515440.1:n.-76C>T
NM_019098.5:c.339C>T MANE Select NP_061971.3:p.Ser113=