Canonical Allele Identifier: CA371450225
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683265T>G (hg19) chr8:g.86671037T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671037T>G , CM000670.2:g.86671037T>G GRCh38
NC_000008.10:g.87683265T>G , CM000670.1:g.87683265T>G GRCh37
NC_000008.9:g.87752381T>G NCBI36
NG_016980.1:g.77639A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.400A>C MANE Select ENSP00000316605.5:p.Asn134His
ENST00000680314.1:n.161A>C
ENST00000681746.1:c.400A>C ENSP00000505959.1:p.Asn134His
ENST00000320005.5:c.400A>C ENSP00000316605.5:p.Asn134His
NM_019098.4:c.400A>C NP_061971.3:p.Asn134His
XM_011517138.1:c.-15A>C XP_011515440.1:n.-15A>C
XM_011517138.2:c.-15A>C XP_011515440.1:n.-15A>C
NM_019098.5:c.400A>C MANE Select NP_061971.3:p.Asn134His
Search 100 bp 5'
Search 100 bp 3'