Canonical Allele Identifier: CA371446393
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86576013-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576013C>G , CM000670.2:g.86576013C>G GRCh38
NC_000008.10:g.87588241C>G , CM000670.1:g.87588241C>G GRCh37
NC_000008.9:g.87657357C>G NCBI36
NG_016980.1:g.172663G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2221G>C MANE Select ENSP00000316605.5:p.Asp741His
ENST00000681546.1:n.2041G>C
ENST00000681746.1:c.*632G>C ENSP00000505959.1:n.*632G>C
ENST00000320005.5:c.2221G>C ENSP00000316605.5:p.Asp741His
ENST00000517327.5:c.276+2676G>C ENSP00000428329.1:n.276+2676G>C
NM_019098.4:c.2221G>C NP_061971.3:p.Asp741His
XM_011517138.1:c.1807G>C XP_011515440.1:p.Asp603His
XM_011517138.2:c.1807G>C XP_011515440.1:p.Asp603His
NM_019098.5:c.2221G>C MANE Select NP_061971.3:p.Asp741His