Canonical Allele Identifier: CA461813924
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645051A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632823A>G , CM000670.2:g.86632823A>G GRCh38
NC_000008.10:g.87645051A>G , CM000670.1:g.87645051A>G GRCh37
NC_000008.9:g.87714167A>G NCBI36
NG_016980.1:g.115853T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1249T>C MANE Select ENSP00000316605.5:p.Leu417=
ENST00000681546.1:n.1069T>C
ENST00000681746.1:c.1249T>C ENSP00000505959.1:p.Leu417=
ENST00000320005.5:c.1249T>C ENSP00000316605.5:p.Leu417=
NM_019098.4:c.1249T>C NP_061971.3:p.Leu417=
XM_011517138.1:c.835T>C XP_011515440.1:p.Leu279=
XM_011517138.2:c.835T>C XP_011515440.1:p.Leu279=
NM_019098.5:c.1249T>C MANE Select NP_061971.3:p.Leu417=
Search 100 bp 5'
Search 100 bp 3'