Canonical Allele Identifier: CA371446015
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575832-A-C
MyVariant Identifiers: chr8:g.87588060A>C (hg19) chr8:g.86575832A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575832A>C , CM000670.2:g.86575832A>C GRCh38
NC_000008.10:g.87588060A>C , CM000670.1:g.87588060A>C GRCh37
NC_000008.9:g.87657176A>C NCBI36
NG_016980.1:g.172844T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2402T>G MANE Select ENSP00000316605.5:p.Ile801Ser
ENST00000681546.1:n.2222T>G
ENST00000681746.1:c.*813T>G ENSP00000505959.1:n.*813T>G
ENST00000320005.5:c.2402T>G ENSP00000316605.5:p.Ile801Ser
ENST00000517327.5:c.276+2857T>G ENSP00000428329.1:n.276+2857T>G
NM_019098.4:c.2402T>G NP_061971.3:p.Ile801Ser
XM_011517138.1:c.1988T>G XP_011515440.1:p.Ile663Ser
XM_011517138.2:c.1988T>G XP_011515440.1:p.Ile663Ser
NM_019098.5:c.2402T>G MANE Select NP_061971.3:p.Ile801Ser
Search 100 bp 5'
Search 100 bp 3'