Canonical Allele Identifier: CA371448315
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87660113C>G (hg19) chr8:g.86647885C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647885C>G , CM000670.2:g.86647885C>G GRCh38
NC_000008.10:g.87660113C>G , CM000670.1:g.87660113C>G GRCh37
NC_000008.9:g.87729229C>G NCBI36
NG_016980.1:g.100791G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.906G>C MANE Select ENSP00000316605.5:p.Leu302Phe
ENST00000681546.1:n.726G>C
ENST00000681746.1:c.906G>C ENSP00000505959.1:p.Leu302Phe
ENST00000320005.5:c.906G>C ENSP00000316605.5:p.Leu302Phe
NM_019098.4:c.906G>C NP_061971.3:p.Leu302Phe
XM_011517138.1:c.492G>C XP_011515440.1:p.Leu164Phe
XM_011517138.2:c.492G>C XP_011515440.1:p.Leu164Phe
NM_019098.5:c.906G>C MANE Select NP_061971.3:p.Leu302Phe
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