Canonical Allele Identifier: CA371449718
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668031C>T , CM000670.2:g.86668031C>T GRCh38
NC_000008.10:g.87680259C>T , CM000670.1:g.87680259C>T GRCh37
NC_000008.9:g.87749375C>T NCBI36
NG_016980.1:g.80645G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.631G>A MANE Select ENSP00000316605.5:p.Asp211Asn
ENST00000681746.1:c.631G>A ENSP00000505959.1:p.Asp211Asn
ENST00000320005.5:c.631G>A ENSP00000316605.5:p.Asp211Asn
NM_019098.4:c.631G>A NP_061971.3:p.Asp211Asn
XM_011517138.1:c.217G>A XP_011515440.1:p.Asp73Asn
XM_011517138.2:c.217G>A XP_011515440.1:p.Asp73Asn
NM_019098.5:c.631G>A MANE Select NP_061971.3:p.Asp211Asn