Canonical Allele Identifier: CA371450255
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86671052-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671052C>G , CM000670.2:g.86671052C>G GRCh38
NC_000008.10:g.87683280C>G , CM000670.1:g.87683280C>G GRCh37
NC_000008.9:g.87752396C>G NCBI36
NG_016980.1:g.77624G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.385G>C MANE Select ENSP00000316605.5:p.Asp129His
ENST00000680314.1:n.146G>C
ENST00000681746.1:c.385G>C ENSP00000505959.1:p.Asp129His
ENST00000320005.5:c.385G>C ENSP00000316605.5:p.Asp129His
NM_019098.4:c.385G>C NP_061971.3:p.Asp129His
XM_011517138.1:c.-30G>C XP_011515440.1:n.-30G>C
XM_011517138.2:c.-30G>C XP_011515440.1:n.-30G>C
NM_019098.5:c.385G>C MANE Select NP_061971.3:p.Asp129His