Canonical Allele Identifier: CA371444537

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87645111A>T (hg19) ; chr8:g.86632883A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632883A>T , CM000670.2:g.86632883A>T	GRCh38
NC_000008.10:g.87645111A>T , CM000670.1:g.87645111A>T	GRCh37
NC_000008.9:g.87714227A>T	NCBI36
NG_016980.1:g.115793T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1189T>A MANE Select	ENSP00000316605.5:p.Cys397Ser
ENST00000681546.1:n.1009T>A
ENST00000681746.1:c.1189T>A	ENSP00000505959.1:p.Cys397Ser
ENST00000320005.5:c.1189T>A	ENSP00000316605.5:p.Cys397Ser
NM_019098.4:c.1189T>A	NP_061971.3:p.Cys397Ser
XM_011517138.1:c.775T>A	XP_011515440.1:p.Cys259Ser
XM_011517138.2:c.775T>A	XP_011515440.1:p.Cys259Ser
NM_019098.5:c.1189T>A MANE Select	NP_061971.3:p.Cys397Ser