Canonical Allele Identifier: CA462114154
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575921-T-C
MyVariant Identifiers: chr8:g.87588149T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575921T>C , CM000670.2:g.86575921T>C GRCh38
NC_000008.10:g.87588149T>C , CM000670.1:g.87588149T>C GRCh37
NC_000008.9:g.87657265T>C NCBI36
NG_016980.1:g.172755A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2313A>G MANE Select ENSP00000316605.5:p.Arg771=
ENST00000681546.1:n.2133A>G
ENST00000681746.1:c.*724A>G ENSP00000505959.1:n.*724A>G
ENST00000320005.5:c.2313A>G ENSP00000316605.5:p.Arg771=
ENST00000517327.5:c.276+2768A>G ENSP00000428329.1:n.276+2768A>G
NM_019098.4:c.2313A>G NP_061971.3:p.Arg771=
XM_011517138.1:c.1899A>G XP_011515440.1:p.Arg633=
XM_011517138.2:c.1899A>G XP_011515440.1:p.Arg633=
NM_019098.5:c.2313A>G MANE Select NP_061971.3:p.Arg771=
Search 100 bp 5'
Search 100 bp 3'