Canonical Allele Identifier: CA371449989

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87680385C>A (hg19) ; chr8:g.86668157C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86668157C>A , CM000670.2:g.86668157C>A	GRCh38
NC_000008.10:g.87680385C>A , CM000670.1:g.87680385C>A	GRCh37
NC_000008.9:g.87749501C>A	NCBI36
NG_016980.1:g.80519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.505G>T MANE Select	ENSP00000316605.5:p.Ala169Ser
ENST00000681746.1:c.505G>T	ENSP00000505959.1:p.Ala169Ser
ENST00000320005.5:c.505G>T	ENSP00000316605.5:p.Ala169Ser
NM_019098.4:c.505G>T	NP_061971.3:p.Ala169Ser
XM_011517138.1:c.91G>T	XP_011515440.1:p.Ala31Ser
XM_011517138.2:c.91G>T	XP_011515440.1:p.Ala31Ser
NM_019098.5:c.505G>T MANE Select	NP_061971.3:p.Ala169Ser