Canonical Allele Identifier: CA371446769

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87656013T>G (hg19) ; chr8:g.86643785T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643785T>G , CM000670.2:g.86643785T>G	GRCh38
NC_000008.10:g.87656013T>G , CM000670.1:g.87656013T>G	GRCh37
NC_000008.9:g.87725129T>G	NCBI36
NG_016980.1:g.104891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1144A>C MANE Select	ENSP00000316605.5:p.Thr382Pro
ENST00000681546.1:n.964A>C
ENST00000681746.1:c.1144A>C	ENSP00000505959.1:p.Thr382Pro
ENST00000320005.5:c.1144A>C	ENSP00000316605.5:p.Thr382Pro
NM_019098.4:c.1144A>C	NP_061971.3:p.Thr382Pro
XM_011517138.1:c.730A>C	XP_011515440.1:p.Thr244Pro
XM_011517138.2:c.730A>C	XP_011515440.1:p.Thr244Pro
NM_019098.5:c.1144A>C MANE Select	NP_061971.3:p.Thr382Pro