Canonical Allele Identifier: CA8064034

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1079418
• ClinVar RCV Id: RCV001394694
• dbSNP Id: rs763429802
• ExAC: 16:56388908 C / T
• gnomAD v2: 16-56388908-C-T
• gnomAD v3: 16-56354996-C-T
• gnomAD v4: 16-56354996-C-T
• MyVariant Identifiers: chr16:g.56388908C>T (hg19) ; chr16:g.56354996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354996C>T , CM000678.2:g.56354996C>T	GRCh38
NC_000016.9:g.56388908C>T , CM000678.1:g.56388908C>T	GRCh37
NC_000016.8:g.54946409C>T	NCBI36
NG_042800.1:g.168658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1008C>T MANE Select	ENSP00000262493.6:p.Phe336=
ENST00000562316.6:c.545-1107C>T	ENSP00000457238.2:n.545-1107C>T
ENST00000564727.2:c.303+9C>T	ENSP00000454971.2:n.303+9C>T
ENST00000568375.2:c.246C>T
ENST00000638210.1:n.1308C>T
ENST00000638705.1:c.1008C>T	ENSP00000491223.1:p.Phe336=
ENST00000638836.1:n.918C>T
ENST00000639251.1:n.909C>T
ENST00000639268.1:c.643C>T
ENST00000639341.1:c.533C>T
ENST00000639770.1:c.1046C>T	ENSP00000491999.1:n.1046C>T
ENST00000640390.1:n.938C>T
ENST00000640469.1:c.372C>T	ENSP00000491875.1:p.Phe124=
ENST00000640560.1:n.784C>T
ENST00000640893.1:c.*406C>T	ENSP00000492677.1:n.*406C>T
ENST00000262493.10:c.1008C>T	ENSP00000262493.6:p.Phe336=
ENST00000564727.1:c.228C>T	ENSP00000454971.1:p.Phe76=
ENST00000568375.1:n.246C>T
NM_020988.2:c.1008C>T	NP_066268.1:p.Phe336=
XM_011523003.1:c.882C>T	XP_011521305.1:p.Phe294=
XM_011523003.3:c.882C>T	XP_011521305.1:p.Phe294=
NM_020988.3:c.1008C>T MANE Select	NP_066268.1:p.Phe336=