Canonical Allele Identifier: CA462114239

Gene: CNGB3

Linked Data

• dbSNP Id: rs1267749104
• MyVariant Identifiers: chr8:g.87588251A>G (hg19) ; chr8:g.86576023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576023A>G , CM000670.2:g.86576023A>G	GRCh38
NC_000008.10:g.87588251A>G , CM000670.1:g.87588251A>G	GRCh37
NC_000008.9:g.87657367A>G	NCBI36
NG_016980.1:g.172653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2211T>C MANE Select	ENSP00000316605.5:p.Asn737=
ENST00000681546.1:n.2031T>C
ENST00000681746.1:c.*622T>C	ENSP00000505959.1:n.*622T>C
ENST00000320005.5:c.2211T>C	ENSP00000316605.5:p.Asn737=
ENST00000517327.5:c.276+2666T>C	ENSP00000428329.1:n.276+2666T>C
NM_019098.4:c.2211T>C	NP_061971.3:p.Asn737=
XM_011517138.1:c.1797T>C	XP_011515440.1:p.Asn599=
XM_011517138.2:c.1797T>C	XP_011515440.1:p.Asn599=
NM_019098.5:c.2211T>C MANE Select	NP_061971.3:p.Asn737=