Canonical Allele Identifier: CA4800151

Gene: CNGB3

Linked Data

• dbSNP Id: rs779911016
• ExAC: 8:87656018 A / T
• MyVariant Identifiers: chr8:g.87656018A>T (hg19) ; chr8:g.86643790A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643790A>T , CM000670.2:g.86643790A>T	GRCh38
NC_000008.10:g.87656018A>T , CM000670.1:g.87656018A>T	GRCh37
NC_000008.9:g.87725134A>T	NCBI36
NG_016980.1:g.104886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1139T>A MANE Select	ENSP00000316605.5:p.Ile380Asn
ENST00000681546.1:n.959T>A
ENST00000681746.1:c.1139T>A	ENSP00000505959.1:p.Ile380Asn
ENST00000320005.5:c.1139T>A	ENSP00000316605.5:p.Ile380Asn
NM_019098.4:c.1139T>A	NP_061971.3:p.Ile380Asn
XM_011517138.1:c.725T>A	XP_011515440.1:p.Ile242Asn
XM_011517138.2:c.725T>A	XP_011515440.1:p.Ile242Asn
NM_019098.5:c.1139T>A MANE Select	NP_061971.3:p.Ile380Asn