Canonical Allele Identifier: CA371448318

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87660114A>T (hg19) ; chr8:g.86647886A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647886A>T , CM000670.2:g.86647886A>T	GRCh38
NC_000008.10:g.87660114A>T , CM000670.1:g.87660114A>T	GRCh37
NC_000008.9:g.87729230A>T	NCBI36
NG_016980.1:g.100790T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.905T>A MANE Select	ENSP00000316605.5:p.Leu302Ter
ENST00000681546.1:n.725T>A
ENST00000681746.1:c.905T>A	ENSP00000505959.1:p.Leu302Ter
ENST00000320005.5:c.905T>A	ENSP00000316605.5:p.Leu302Ter
NM_019098.4:c.905T>A	NP_061971.3:p.Leu302Ter
XM_011517138.1:c.491T>A	XP_011515440.1:p.Leu164Ter
XM_011517138.2:c.491T>A	XP_011515440.1:p.Leu164Ter
NM_019098.5:c.905T>A MANE Select	NP_061971.3:p.Leu302Ter