Canonical Allele Identifier: CA371444228

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632815-T-A
• MyVariant Identifiers: chr8:g.87645043T>A (hg19) ; chr8:g.86632815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632815T>A , CM000670.2:g.86632815T>A	GRCh38
NC_000008.10:g.87645043T>A , CM000670.1:g.87645043T>A	GRCh37
NC_000008.9:g.87714159T>A	NCBI36
NG_016980.1:g.115861A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1257A>T MANE Select	ENSP00000316605.5:p.Glu419Asp
ENST00000681546.1:n.1077A>T
ENST00000681746.1:c.1257A>T	ENSP00000505959.1:p.Glu419Asp
ENST00000320005.5:c.1257A>T	ENSP00000316605.5:p.Glu419Asp
NM_019098.4:c.1257A>T	NP_061971.3:p.Glu419Asp
XM_011517138.1:c.843A>T	XP_011515440.1:p.Glu281Asp
XM_011517138.2:c.843A>T	XP_011515440.1:p.Glu281Asp
NM_019098.5:c.1257A>T MANE Select	NP_061971.3:p.Glu419Asp