Canonical Allele Identifier: CA461815811

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87656011A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643783A>G , CM000670.2:g.86643783A>G	GRCh38
NC_000008.10:g.87656011A>G , CM000670.1:g.87656011A>G	GRCh37
NC_000008.9:g.87725127A>G	NCBI36
NG_016980.1:g.104893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1146T>C MANE Select	ENSP00000316605.5:p.Thr382=
ENST00000681546.1:n.966T>C
ENST00000681746.1:c.1146T>C	ENSP00000505959.1:p.Thr382=
ENST00000320005.5:c.1146T>C	ENSP00000316605.5:p.Thr382=
NM_019098.4:c.1146T>C	NP_061971.3:p.Thr382=
XM_011517138.1:c.732T>C	XP_011515440.1:p.Thr244=
XM_011517138.2:c.732T>C	XP_011515440.1:p.Thr244=
NM_019098.5:c.1146T>C MANE Select	NP_061971.3:p.Thr382=