Canonical Allele Identifier: CA371446743
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86643773-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643773C>T , CM000670.2:g.86643773C>T GRCh38
NC_000008.10:g.87656001C>T , CM000670.1:g.87656001C>T GRCh37
NC_000008.9:g.87725117C>T NCBI36
NG_016980.1:g.104903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1156G>A MANE Select ENSP00000316605.5:p.Val386Met
ENST00000681546.1:n.976G>A
ENST00000681746.1:c.1156G>A ENSP00000505959.1:p.Val386Met
ENST00000320005.5:c.1156G>A ENSP00000316605.5:p.Val386Met
NM_019098.4:c.1156G>A NP_061971.3:p.Val386Met
XM_011517138.1:c.742G>A XP_011515440.1:p.Val248Met
XM_011517138.2:c.742G>A XP_011515440.1:p.Val248Met
NM_019098.5:c.1156G>A MANE Select NP_061971.3:p.Val386Met