Canonical Allele Identifier: CA461831253
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683254T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671026T>C , CM000670.2:g.86671026T>C GRCh38
NC_000008.10:g.87683254T>C , CM000670.1:g.87683254T>C GRCh37
NC_000008.9:g.87752370T>C NCBI36
NG_016980.1:g.77650A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.411A>G MANE Select ENSP00000316605.5:p.Lys137=
ENST00000680314.1:n.172A>G
ENST00000681746.1:c.411A>G ENSP00000505959.1:p.Lys137=
ENST00000320005.5:c.411A>G ENSP00000316605.5:p.Lys137=
NM_019098.4:c.411A>G NP_061971.3:p.Lys137=
XM_011517138.1:c.-4A>G XP_011515440.1:n.-4A>G
XM_011517138.2:c.-4A>G XP_011515440.1:n.-4A>G
NM_019098.5:c.411A>G MANE Select NP_061971.3:p.Lys137=