Canonical Allele Identifier: CA461831241
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683242T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671014T>C , CM000670.2:g.86671014T>C GRCh38
NC_000008.10:g.87683242T>C , CM000670.1:g.87683242T>C GRCh37
NC_000008.9:g.87752358T>C NCBI36
NG_016980.1:g.77662A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.423A>G MANE Select ENSP00000316605.5:p.Gln141=
ENST00000680314.1:n.184A>G
ENST00000681746.1:c.423A>G ENSP00000505959.1:p.Gln141=
ENST00000320005.5:c.423A>G ENSP00000316605.5:p.Gln141=
NM_019098.4:c.423A>G NP_061971.3:p.Gln141=
XM_011517138.1:c.9A>G XP_011515440.1:p.Gln3=
XM_011517138.2:c.9A>G XP_011515440.1:p.Gln3=
NM_019098.5:c.423A>G MANE Select NP_061971.3:p.Gln141=