Canonical Allele Identifier: CA461978600

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87751893G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739665G>C , CM000670.2:g.86739665G>C	GRCh38
NC_000008.10:g.87751893G>C , CM000670.1:g.87751893G>C	GRCh37
NC_000008.9:g.87821009G>C	NCBI36
NG_016980.1:g.9011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.201C>G MANE Select	ENSP00000316605.5:p.Thr67=
ENST00000681746.1:c.201C>G	ENSP00000505959.1:p.Thr67=
ENST00000320005.5:c.201C>G	ENSP00000316605.5:p.Thr67=
ENST00000519777.1:n.183C>G
NM_019098.4:c.201C>G	NP_061971.3:p.Thr67=
NM_019098.5:c.201C>G MANE Select	NP_061971.3:p.Thr67=