Canonical Allele Identifier: CA462114153

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87588148T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575920T>G , CM000670.2:g.86575920T>G	GRCh38
NC_000008.10:g.87588148T>G , CM000670.1:g.87588148T>G	GRCh37
NC_000008.9:g.87657264T>G	NCBI36
NG_016980.1:g.172756A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2314A>C MANE Select	ENSP00000316605.5:p.Arg772=
ENST00000681546.1:n.2134A>C
ENST00000681746.1:c.*725A>C	ENSP00000505959.1:n.*725A>C
ENST00000320005.5:c.2314A>C	ENSP00000316605.5:p.Arg772=
ENST00000517327.5:c.276+2769A>C	ENSP00000428329.1:n.276+2769A>C
NM_019098.4:c.2314A>C	NP_061971.3:p.Arg772=
XM_011517138.1:c.1900A>C	XP_011515440.1:p.Arg634=
XM_011517138.2:c.1900A>C	XP_011515440.1:p.Arg634=
NM_019098.5:c.2314A>C MANE Select	NP_061971.3:p.Arg772=