Canonical Allele Identifier: CA371446143

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87588123G>C (hg19) ; chr8:g.86575895G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575895G>C , CM000670.2:g.86575895G>C	GRCh38
NC_000008.10:g.87588123G>C , CM000670.1:g.87588123G>C	GRCh37
NC_000008.9:g.87657239G>C	NCBI36
NG_016980.1:g.172781C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2339C>G MANE Select	ENSP00000316605.5:p.Ser780Cys
ENST00000681546.1:n.2159C>G
ENST00000681746.1:c.*750C>G	ENSP00000505959.1:n.*750C>G
ENST00000320005.5:c.2339C>G	ENSP00000316605.5:p.Ser780Cys
ENST00000517327.5:c.276+2794C>G	ENSP00000428329.1:n.276+2794C>G
NM_019098.4:c.2339C>G	NP_061971.3:p.Ser780Cys
XM_011517138.1:c.1925C>G	XP_011515440.1:p.Ser642Cys
XM_011517138.2:c.1925C>G	XP_011515440.1:p.Ser642Cys
NM_019098.5:c.2339C>G MANE Select	NP_061971.3:p.Ser780Cys