Canonical Allele Identifier: CA371456640
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v3: 8-86739655-C-A
gnomAD v4: 8-86739655-C-A
MyVariant Identifiers: chr8:g.87751883C>A (hg19) chr8:g.86739655C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739655C>A , CM000670.2:g.86739655C>A GRCh38
NC_000008.10:g.87751883C>A , CM000670.1:g.87751883C>A GRCh37
NC_000008.9:g.87820999C>A NCBI36
NG_016980.1:g.9021G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211G>T MANE Select ENSP00000316605.5:p.Asp71Tyr
ENST00000681746.1:c.211G>T ENSP00000505959.1:p.Asp71Tyr
ENST00000320005.5:c.211G>T ENSP00000316605.5:p.Asp71Tyr
ENST00000519777.1:n.193G>T
NM_019098.4:c.211G>T NP_061971.3:p.Asp71Tyr
NM_019098.5:c.211G>T MANE Select NP_061971.3:p.Asp71Tyr
Search 100 bp 5'
Search 100 bp 3'