Canonical Allele Identifier: CA461815843

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2848088
• ClinVar RCV Id: RCV003693099
• MyVariant Identifiers: chr8:g.87656065C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643837C>G , CM000670.2:g.86643837C>G	GRCh38
NC_000008.10:g.87656065C>G , CM000670.1:g.87656065C>G	GRCh37
NC_000008.9:g.87725181C>G	NCBI36
NG_016980.1:g.104839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1092G>C MANE Select	ENSP00000316605.5:p.Leu364=
ENST00000681546.1:n.912G>C
ENST00000681746.1:c.1092G>C	ENSP00000505959.1:p.Leu364=
ENST00000320005.5:c.1092G>C	ENSP00000316605.5:p.Leu364=
NM_019098.4:c.1092G>C	NP_061971.3:p.Leu364=
XM_011517138.1:c.678G>C	XP_011515440.1:p.Leu226=
XM_011517138.2:c.678G>C	XP_011515440.1:p.Leu226=
NM_019098.5:c.1092G>C MANE Select	NP_061971.3:p.Leu364=