Canonical Allele Identifier: CA371446780

Gene: CNGB3

Linked Data

• dbSNP Id: rs1175737539
• gnomAD v2: 8-87656019-T-C
• gnomAD v4: 8-86643791-T-C
• MyVariant Identifiers: chr8:g.87656019T>C (hg19) ; chr8:g.86643791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643791T>C , CM000670.2:g.86643791T>C	GRCh38
NC_000008.10:g.87656019T>C , CM000670.1:g.87656019T>C	GRCh37
NC_000008.9:g.87725135T>C	NCBI36
NG_016980.1:g.104885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1138A>G MANE Select	ENSP00000316605.5:p.Ile380Val
ENST00000681546.1:n.958A>G
ENST00000681746.1:c.1138A>G	ENSP00000505959.1:p.Ile380Val
ENST00000320005.5:c.1138A>G	ENSP00000316605.5:p.Ile380Val
NM_019098.4:c.1138A>G	NP_061971.3:p.Ile380Val
XM_011517138.1:c.724A>G	XP_011515440.1:p.Ile242Val
XM_011517138.2:c.724A>G	XP_011515440.1:p.Ile242Val
NM_019098.5:c.1138A>G MANE Select	NP_061971.3:p.Ile380Val