Canonical Allele Identifier: CA371456734
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739702-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739702G>T , CM000670.2:g.86739702G>T GRCh38
NC_000008.10:g.87751930G>T , CM000670.1:g.87751930G>T GRCh37
NC_000008.9:g.87821046G>T NCBI36
NG_016980.1:g.8974C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.164C>A MANE Select ENSP00000316605.5:p.Thr55Asn
ENST00000681746.1:c.164C>A ENSP00000505959.1:p.Thr55Asn
ENST00000320005.5:c.164C>A ENSP00000316605.5:p.Thr55Asn
ENST00000519777.1:n.146C>A
NM_019098.4:c.164C>A NP_061971.3:p.Thr55Asn
NM_019098.5:c.164C>A MANE Select NP_061971.3:p.Thr55Asn