Canonical Allele Identifier: CA371448083
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86647808-A-G
MyVariant Identifiers: chr8:g.87660036A>G (hg19) chr8:g.86647808A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647808A>G , CM000670.2:g.86647808A>G GRCh38
NC_000008.10:g.87660036A>G , CM000670.1:g.87660036A>G GRCh37
NC_000008.9:g.87729152A>G NCBI36
NG_016980.1:g.100868T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.983T>C MANE Select ENSP00000316605.5:p.Met328Thr
ENST00000681546.1:n.803T>C
ENST00000681746.1:c.983T>C ENSP00000505959.1:p.Met328Thr
ENST00000320005.5:c.983T>C ENSP00000316605.5:p.Met328Thr
NM_019098.4:c.983T>C NP_061971.3:p.Met328Thr
XM_011517138.1:c.569T>C XP_011515440.1:p.Met190Thr
XM_011517138.2:c.569T>C XP_011515440.1:p.Met190Thr
NM_019098.5:c.983T>C MANE Select NP_061971.3:p.Met328Thr
Search 100 bp 5'
Search 100 bp 3'