Canonical Allele Identifier: CA461805513
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87590998T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86578770T>C , CM000670.2:g.86578770T>C GRCh38
NC_000008.10:g.87590998T>C , CM000670.1:g.87590998T>C GRCh37
NC_000008.9:g.87660114T>C NCBI36
NG_016980.1:g.169906A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.2022A>G MANE Select ENSP00000316605.5:p.Lys674=
ENST00000681546.1:n.1842A>G
ENST00000681746.1:c.*433A>G ENSP00000505959.1:n.*433A>G
ENST00000320005.5:c.2022A>G ENSP00000316605.5:p.Lys674=
ENST00000517327.5:c.195A>G ENSP00000428329.1:p.Lys65=
NM_019098.4:c.2022A>G NP_061971.3:p.Lys674=
XM_011517138.1:c.1608A>G XP_011515440.1:p.Lys536=
XM_011517138.2:c.1608A>G XP_011515440.1:p.Lys536=
NM_019098.5:c.2022A>G MANE Select NP_061971.3:p.Lys674=
Search 100 bp 5'
Search 100 bp 3'