Canonical Allele Identifier: CA461831217
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683221T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670993T>C , CM000670.2:g.86670993T>C GRCh38
NC_000008.10:g.87683221T>C , CM000670.1:g.87683221T>C GRCh37
NC_000008.9:g.87752337T>C NCBI36
NG_016980.1:g.77683A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.444A>G MANE Select ENSP00000316605.5:p.Lys148=
ENST00000680314.1:n.205A>G
ENST00000681746.1:c.444A>G ENSP00000505959.1:p.Lys148=
ENST00000320005.5:c.444A>G ENSP00000316605.5:p.Lys148=
NM_019098.4:c.444A>G NP_061971.3:p.Lys148=
XM_011517138.1:c.30A>G XP_011515440.1:p.Lys10=
XM_011517138.2:c.30A>G XP_011515440.1:p.Lys10=
NM_019098.5:c.444A>G MANE Select NP_061971.3:p.Lys148=