Canonical Allele Identifier: CA371448091
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86647812-T-C
MyVariant Identifiers: chr8:g.87660040T>C (hg19) chr8:g.86647812T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647812T>C , CM000670.2:g.86647812T>C GRCh38
NC_000008.10:g.87660040T>C , CM000670.1:g.87660040T>C GRCh37
NC_000008.9:g.87729156T>C NCBI36
NG_016980.1:g.100864A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.979A>G MANE Select ENSP00000316605.5:p.Arg327Gly
ENST00000681546.1:n.799A>G
ENST00000681746.1:c.979A>G ENSP00000505959.1:p.Arg327Gly
ENST00000320005.5:c.979A>G ENSP00000316605.5:p.Arg327Gly
NM_019098.4:c.979A>G NP_061971.3:p.Arg327Gly
XM_011517138.1:c.565A>G XP_011515440.1:p.Arg189Gly
XM_011517138.2:c.565A>G XP_011515440.1:p.Arg189Gly
NM_019098.5:c.979A>G MANE Select NP_061971.3:p.Arg327Gly
Search 100 bp 5'
Search 100 bp 3'