Canonical Allele Identifier: CA461831252

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1081043
• ClinVar RCV Id: RCV001396882
• dbSNP Id: rs2131618992
• MyVariant Identifiers: chr8:g.87683253T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671025T>G , CM000670.2:g.86671025T>G	GRCh38
NC_000008.10:g.87683253T>G , CM000670.1:g.87683253T>G	GRCh37
NC_000008.9:g.87752369T>G	NCBI36
NG_016980.1:g.77651A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.412A>C MANE Select	ENSP00000316605.5:p.Arg138=
ENST00000680314.1:n.173A>C
ENST00000681746.1:c.412A>C	ENSP00000505959.1:p.Arg138=
ENST00000320005.5:c.412A>C	ENSP00000316605.5:p.Arg138=
NM_019098.4:c.412A>C	NP_061971.3:p.Arg138=
XM_011517138.1:c.-3A>C	XP_011515440.1:n.-3A>C
XM_011517138.2:c.-3A>C	XP_011515440.1:n.-3A>C
NM_019098.5:c.412A>C MANE Select	NP_061971.3:p.Arg138=