Canonical Allele Identifier: CA461831301
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683305T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671077T>C , CM000670.2:g.86671077T>C GRCh38
NC_000008.10:g.87683305T>C , CM000670.1:g.87683305T>C GRCh37
NC_000008.9:g.87752421T>C NCBI36
NG_016980.1:g.77599A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.360A>G MANE Select ENSP00000316605.5:p.Ala120=
ENST00000680314.1:n.121A>G
ENST00000681746.1:c.360A>G ENSP00000505959.1:p.Ala120=
ENST00000320005.5:c.360A>G ENSP00000316605.5:p.Ala120=
NM_019098.4:c.360A>G NP_061971.3:p.Ala120=
XM_011517138.1:c.-55A>G XP_011515440.1:n.-55A>G
XM_011517138.2:c.-55A>G XP_011515440.1:n.-55A>G
NM_019098.5:c.360A>G MANE Select NP_061971.3:p.Ala120=
Search 100 bp 5'
Search 100 bp 3'