Canonical Allele Identifier: CA371446844
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87656048A>T (hg19) chr8:g.86643820A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643820A>T , CM000670.2:g.86643820A>T GRCh38
NC_000008.10:g.87656048A>T , CM000670.1:g.87656048A>T GRCh37
NC_000008.9:g.87725164A>T NCBI36
NG_016980.1:g.104856T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1109T>A MANE Select ENSP00000316605.5:p.Val370Asp
ENST00000681546.1:n.929T>A
ENST00000681746.1:c.1109T>A ENSP00000505959.1:p.Val370Asp
ENST00000320005.5:c.1109T>A ENSP00000316605.5:p.Val370Asp
NM_019098.4:c.1109T>A NP_061971.3:p.Val370Asp
XM_011517138.1:c.695T>A XP_011515440.1:p.Val232Asp
XM_011517138.2:c.695T>A XP_011515440.1:p.Val232Asp
NM_019098.5:c.1109T>A MANE Select NP_061971.3:p.Val370Asp
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