Canonical Allele Identifier: CA371444267
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645050A>C (hg19) chr8:g.86632822A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632822A>C , CM000670.2:g.86632822A>C GRCh38
NC_000008.10:g.87645050A>C , CM000670.1:g.87645050A>C GRCh37
NC_000008.9:g.87714166A>C NCBI36
NG_016980.1:g.115854T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1250T>G MANE Select ENSP00000316605.5:p.Leu417Ter
ENST00000681546.1:n.1070T>G
ENST00000681746.1:c.1250T>G ENSP00000505959.1:p.Leu417Ter
ENST00000320005.5:c.1250T>G ENSP00000316605.5:p.Leu417Ter
NM_019098.4:c.1250T>G NP_061971.3:p.Leu417Ter
XM_011517138.1:c.836T>G XP_011515440.1:p.Leu279Ter
XM_011517138.2:c.836T>G XP_011515440.1:p.Leu279Ter
NM_019098.5:c.1250T>G MANE Select NP_061971.3:p.Leu417Ter
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