Canonical Allele Identifier: CA371444097

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632786-G-A
• MyVariant Identifiers: chr8:g.87645014G>A (hg19) ; chr8:g.86632786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632786G>A , CM000670.2:g.86632786G>A	GRCh38
NC_000008.10:g.87645014G>A , CM000670.1:g.87645014G>A	GRCh37
NC_000008.9:g.87714130G>A	NCBI36
NG_016980.1:g.115890C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1286C>T MANE Select	ENSP00000316605.5:p.Ser429Phe
ENST00000681546.1:n.1106C>T
ENST00000681746.1:c.1286C>T	ENSP00000505959.1:p.Ser429Phe
ENST00000320005.5:c.1286C>T	ENSP00000316605.5:p.Ser429Phe
NM_019098.4:c.1286C>T	NP_061971.3:p.Ser429Phe
XM_011517138.1:c.872C>T	XP_011515440.1:p.Ser291Phe
XM_011517138.2:c.872C>T	XP_011515440.1:p.Ser291Phe
NM_019098.5:c.1286C>T MANE Select	NP_061971.3:p.Ser429Phe