Canonical Allele Identifier: CA371450248

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87683277C>G (hg19) ; chr8:g.86671049C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671049C>G , CM000670.2:g.86671049C>G	GRCh38
NC_000008.10:g.87683277C>G , CM000670.1:g.87683277C>G	GRCh37
NC_000008.9:g.87752393C>G	NCBI36
NG_016980.1:g.77627G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.388G>C MANE Select	ENSP00000316605.5:p.Ala130Pro
ENST00000680314.1:n.149G>C
ENST00000681746.1:c.388G>C	ENSP00000505959.1:p.Ala130Pro
ENST00000320005.5:c.388G>C	ENSP00000316605.5:p.Ala130Pro
NM_019098.4:c.388G>C	NP_061971.3:p.Ala130Pro
XM_011517138.1:c.-27G>C	XP_011515440.1:n.-27G>C
XM_011517138.2:c.-27G>C	XP_011515440.1:n.-27G>C
NM_019098.5:c.388G>C MANE Select	NP_061971.3:p.Ala130Pro