Canonical Allele Identifier: CA371447370

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87590994A>C (hg19) ; chr8:g.86578766A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86578766A>C , CM000670.2:g.86578766A>C	GRCh38
NC_000008.10:g.87590994A>C , CM000670.1:g.87590994A>C	GRCh37
NC_000008.9:g.87660110A>C	NCBI36
NG_016980.1:g.169910T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.2026T>G MANE Select	ENSP00000316605.5:p.Phe676Val
ENST00000681546.1:n.1846T>G
ENST00000681746.1:c.*437T>G	ENSP00000505959.1:n.*437T>G
ENST00000320005.5:c.2026T>G	ENSP00000316605.5:p.Phe676Val
ENST00000517327.5:c.199T>G	ENSP00000428329.1:p.Phe67Val
NM_019098.4:c.2026T>G	NP_061971.3:p.Phe676Val
XM_011517138.1:c.1612T>G	XP_011515440.1:p.Phe538Val
XM_011517138.2:c.1612T>G	XP_011515440.1:p.Phe538Val
NM_019098.5:c.2026T>G MANE Select	NP_061971.3:p.Phe676Val