Canonical Allele Identifier: CA371446759

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87656009G>C (hg19) ; chr8:g.86643781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643781G>C , CM000670.2:g.86643781G>C	GRCh38
NC_000008.10:g.87656009G>C , CM000670.1:g.87656009G>C	GRCh37
NC_000008.9:g.87725125G>C	NCBI36
NG_016980.1:g.104895C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1148C>G MANE Select	ENSP00000316605.5:p.Thr383Ser
ENST00000681546.1:n.968C>G
ENST00000681746.1:c.1148C>G	ENSP00000505959.1:p.Thr383Ser
ENST00000320005.5:c.1148C>G	ENSP00000316605.5:p.Thr383Ser
NM_019098.4:c.1148C>G	NP_061971.3:p.Thr383Ser
XM_011517138.1:c.734C>G	XP_011515440.1:p.Thr245Ser
XM_011517138.2:c.734C>G	XP_011515440.1:p.Thr245Ser
NM_019098.5:c.1148C>G MANE Select	NP_061971.3:p.Thr383Ser