Canonical Allele Identifier: CA8063826

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2160063
• ClinVar RCV Id: RCV003075758
• dbSNP Id: rs747707167
• ExAC: 16:56370697 C / T
• gnomAD v2: 16-56370697-C-T
• gnomAD v4: 16-56336785-C-T
• MyVariant Identifiers: chr16:g.56370697C>T (hg19) ; chr16:g.56336785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336785C>T , CM000678.2:g.56336785C>T	GRCh38
NC_000016.9:g.56370697C>T , CM000678.1:g.56370697C>T	GRCh37
NC_000016.8:g.54928198C>T	NCBI36
NG_042800.1:g.150447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.648C>T	ENSP00000262494.7:p.Phe216=
ENST00000262493.12:c.648C>T MANE Select	ENSP00000262493.6:p.Phe216=
ENST00000262494.12:c.648C>T	ENSP00000262494.7:p.Phe216=
ENST00000562316.6:c.315C>T	ENSP00000457238.2:p.Phe105=
ENST00000568375.2:c.40C>T
ENST00000638185.1:n.863C>T
ENST00000638210.1:n.948C>T
ENST00000638705.1:c.648C>T	ENSP00000491223.1:p.Phe216=
ENST00000638836.1:n.558C>T
ENST00000639055.1:n.1369C>T
ENST00000639251.1:n.549C>T
ENST00000639268.1:c.283C>T
ENST00000639341.1:c.173C>T
ENST00000639770.1:c.686C>T	ENSP00000491999.1:n.686C>T
ENST00000640390.1:n.578C>T
ENST00000640469.1:c.12C>T	ENSP00000491875.1:p.Phe4=
ENST00000640560.1:n.424C>T
ENST00000640893.1:c.*46C>T	ENSP00000492677.1:n.*46C>T
ENST00000262493.10:c.648C>T	ENSP00000262493.6:p.Phe216=
ENST00000262494.11:c.648C>T	ENSP00000262494.7:p.Phe216=
ENST00000568375.1:n.40C>T
NM_020988.2:c.648C>T	NP_066268.1:p.Phe216=
NM_138736.2:c.648C>T	NP_620073.2:p.Phe216=
XM_011523003.1:c.522C>T	XP_011521305.1:p.Phe174=
XM_011523003.3:c.522C>T	XP_011521305.1:p.Phe174=
NM_020988.3:c.648C>T MANE Select	NP_066268.1:p.Phe216=
NM_138736.3:c.648C>T	NP_620073.2:p.Phe216=