Canonical Allele Identifier: CA371450227

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87683266G>T (hg19) ; chr8:g.86671038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671038G>T , CM000670.2:g.86671038G>T	GRCh38
NC_000008.10:g.87683266G>T , CM000670.1:g.87683266G>T	GRCh37
NC_000008.9:g.87752382G>T	NCBI36
NG_016980.1:g.77638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.399C>A MANE Select	ENSP00000316605.5:p.His133Gln
ENST00000680314.1:n.160C>A
ENST00000681746.1:c.399C>A	ENSP00000505959.1:p.His133Gln
ENST00000320005.5:c.399C>A	ENSP00000316605.5:p.His133Gln
NM_019098.4:c.399C>A	NP_061971.3:p.His133Gln
XM_011517138.1:c.-16C>A	XP_011515440.1:n.-16C>A
XM_011517138.2:c.-16C>A	XP_011515440.1:n.-16C>A
NM_019098.5:c.399C>A MANE Select	NP_061971.3:p.His133Gln