Canonical Allele Identifier: CA371446813
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86643806-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643806A>C , CM000670.2:g.86643806A>C GRCh38
NC_000008.10:g.87656034A>C , CM000670.1:g.87656034A>C GRCh37
NC_000008.9:g.87725150A>C NCBI36
NG_016980.1:g.104870T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1123T>G MANE Select ENSP00000316605.5:p.Ser375Ala
ENST00000681546.1:n.943T>G
ENST00000681746.1:c.1123T>G ENSP00000505959.1:p.Ser375Ala
ENST00000320005.5:c.1123T>G ENSP00000316605.5:p.Ser375Ala
NM_019098.4:c.1123T>G NP_061971.3:p.Ser375Ala
XM_011517138.1:c.709T>G XP_011515440.1:p.Ser237Ala
XM_011517138.2:c.709T>G XP_011515440.1:p.Ser237Ala
NM_019098.5:c.1123T>G MANE Select NP_061971.3:p.Ser375Ala