Canonical Allele Identifier: CA371449710
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87680256A>G (hg19) chr8:g.86668028A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668028A>G , CM000670.2:g.86668028A>G GRCh38
NC_000008.10:g.87680256A>G , CM000670.1:g.87680256A>G GRCh37
NC_000008.9:g.87749372A>G NCBI36
NG_016980.1:g.80648T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.634T>C MANE Select ENSP00000316605.5:p.Ser212Pro
ENST00000681746.1:c.634T>C ENSP00000505959.1:p.Ser212Pro
ENST00000320005.5:c.634T>C ENSP00000316605.5:p.Ser212Pro
NM_019098.4:c.634T>C NP_061971.3:p.Ser212Pro
XM_011517138.1:c.220T>C XP_011515440.1:p.Ser74Pro
XM_011517138.2:c.220T>C XP_011515440.1:p.Ser74Pro
NM_019098.5:c.634T>C MANE Select NP_061971.3:p.Ser212Pro
Search 100 bp 5'
Search 100 bp 3'