Canonical Allele Identifier: CA371449715
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86668030-T-G
MyVariant Identifiers: chr8:g.87680258T>G (hg19) chr8:g.86668030T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668030T>G , CM000670.2:g.86668030T>G GRCh38
NC_000008.10:g.87680258T>G , CM000670.1:g.87680258T>G GRCh37
NC_000008.9:g.87749374T>G NCBI36
NG_016980.1:g.80646A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.632A>C MANE Select ENSP00000316605.5:p.Asp211Ala
ENST00000681746.1:c.632A>C ENSP00000505959.1:p.Asp211Ala
ENST00000320005.5:c.632A>C ENSP00000316605.5:p.Asp211Ala
NM_019098.4:c.632A>C NP_061971.3:p.Asp211Ala
XM_011517138.1:c.218A>C XP_011515440.1:p.Asp73Ala
XM_011517138.2:c.218A>C XP_011515440.1:p.Asp73Ala
NM_019098.5:c.632A>C MANE Select NP_061971.3:p.Asp211Ala
Search 100 bp 5'
Search 100 bp 3'