Canonical Allele Identifier: CA371450228

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87683267T>A (hg19) ; chr8:g.86671039T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671039T>A , CM000670.2:g.86671039T>A	GRCh38
NC_000008.10:g.87683267T>A , CM000670.1:g.87683267T>A	GRCh37
NC_000008.9:g.87752383T>A	NCBI36
NG_016980.1:g.77637A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.398A>T MANE Select	ENSP00000316605.5:p.His133Leu
ENST00000680314.1:n.159A>T
ENST00000681746.1:c.398A>T	ENSP00000505959.1:p.His133Leu
ENST00000320005.5:c.398A>T	ENSP00000316605.5:p.His133Leu
NM_019098.4:c.398A>T	NP_061971.3:p.His133Leu
XM_011517138.1:c.-17A>T	XP_011515440.1:n.-17A>T
XM_011517138.2:c.-17A>T	XP_011515440.1:n.-17A>T
NM_019098.5:c.398A>T MANE Select	NP_061971.3:p.His133Leu