Canonical Allele Identifier: CA180348169

Gene: CNGB3

Linked Data

• dbSNP Id: rs868097784
• MyVariant Identifiers: chr8:g.87656027T>G (hg19) ; chr8:g.86643799T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643799T>G , CM000670.2:g.86643799T>G	GRCh38
NC_000008.10:g.87656027T>G , CM000670.1:g.87656027T>G	GRCh37
NC_000008.9:g.87725143T>G	NCBI36
NG_016980.1:g.104877A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1130A>C MANE Select	ENSP00000316605.5:p.Tyr377Ser
ENST00000681546.1:n.950A>C
ENST00000681746.1:c.1130A>C	ENSP00000505959.1:p.Tyr377Ser
ENST00000320005.5:c.1130A>C	ENSP00000316605.5:p.Tyr377Ser
NM_019098.4:c.1130A>C	NP_061971.3:p.Tyr377Ser
XM_011517138.1:c.716A>C	XP_011515440.1:p.Tyr239Ser
XM_011517138.2:c.716A>C	XP_011515440.1:p.Tyr239Ser
NM_019098.5:c.1130A>C MANE Select	NP_061971.3:p.Tyr377Ser