Canonical Allele Identifier: CA371446745

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86643774-C-G
• MyVariant Identifiers: chr8:g.87656002C>G (hg19) ; chr8:g.86643774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643774C>G , CM000670.2:g.86643774C>G	GRCh38
NC_000008.10:g.87656002C>G , CM000670.1:g.87656002C>G	GRCh37
NC_000008.9:g.87725118C>G	NCBI36
NG_016980.1:g.104902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1155G>C MANE Select	ENSP00000316605.5:p.Trp385Cys
ENST00000681546.1:n.975G>C
ENST00000681746.1:c.1155G>C	ENSP00000505959.1:p.Trp385Cys
ENST00000320005.5:c.1155G>C	ENSP00000316605.5:p.Trp385Cys
NM_019098.4:c.1155G>C	NP_061971.3:p.Trp385Cys
XM_011517138.1:c.741G>C	XP_011515440.1:p.Trp247Cys
XM_011517138.2:c.741G>C	XP_011515440.1:p.Trp247Cys
NM_019098.5:c.1155G>C MANE Select	NP_061971.3:p.Trp385Cys