Canonical Allele Identifier: CA461831237

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87683236T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671008T>G , CM000670.2:g.86671008T>G	GRCh38
NC_000008.10:g.87683236T>G , CM000670.1:g.87683236T>G	GRCh37
NC_000008.9:g.87752352T>G	NCBI36
NG_016980.1:g.77668A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.429A>C MANE Select	ENSP00000316605.5:p.Thr143=
ENST00000680314.1:n.190A>C
ENST00000681746.1:c.429A>C	ENSP00000505959.1:p.Thr143=
ENST00000320005.5:c.429A>C	ENSP00000316605.5:p.Thr143=
NM_019098.4:c.429A>C	NP_061971.3:p.Thr143=
XM_011517138.1:c.15A>C	XP_011515440.1:p.Thr5=
XM_011517138.2:c.15A>C	XP_011515440.1:p.Thr5=
NM_019098.5:c.429A>C MANE Select	NP_061971.3:p.Thr143=