Canonical Allele Identifier: CA371447391

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87591005G>T (hg19) ; chr8:g.86578777G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86578777G>T , CM000670.2:g.86578777G>T	GRCh38
NC_000008.10:g.87591005G>T , CM000670.1:g.87591005G>T	GRCh37
NC_000008.9:g.87660121G>T	NCBI36
NG_016980.1:g.169899C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.2015C>A MANE Select	ENSP00000316605.5:p.Thr672Lys
ENST00000681546.1:n.1835C>A
ENST00000681746.1:c.*426C>A	ENSP00000505959.1:n.*426C>A
ENST00000320005.5:c.2015C>A	ENSP00000316605.5:p.Thr672Lys
ENST00000517327.5:c.188C>A	ENSP00000428329.1:p.Thr63Lys
NM_019098.4:c.2015C>A	NP_061971.3:p.Thr672Lys
XM_011517138.1:c.1601C>A	XP_011515440.1:p.Thr534Lys
XM_011517138.2:c.1601C>A	XP_011515440.1:p.Thr534Lys
NM_019098.5:c.2015C>A MANE Select	NP_061971.3:p.Thr672Lys