Canonical Allele Identifier: CA16602474

Gene: GNA11

Linked Data

• ClinVar Variation Id: 376001
• ClinVar RCV Id: RCV000425941 ; RCV000432719
• dbSNP Id: rs1057519742
• COSMIC: COSM52970
• MyVariant Identifiers: chr19:g.3118942A>C (hg19) ; chr19:g.3118944A>C (hg38)
• PubMed: PMID:1328859 ; PMID:2549426 ; PMID:21083380 ; PMID:22733540 ; PMID:22808163 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3118944A>C , CM000681.2:g.3118944A>C	GRCh38
NC_000019.9:g.3118942A>C , CM000681.1:g.3118942A>C	GRCh37
NC_000019.8:g.3069942A>C	NCBI36
NG_033852.2:g.29535A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000078429.9:c.626A>C MANE Select	ENSP00000078429.3:p.Gln209Pro
ENST00000078429.8:c.626A>C	ENSP00000078429.3:p.Gln209Pro
ENST00000586180.1:n.145A>C
ENST00000587636.1:c.172A>C
ENST00000590534.1:n.1795A>C
ENST00000591301.1:n.132A>C
NM_002067.4:c.626A>C	NP_002058.2:p.Gln209Pro
NM_002067.5:c.626A>C MANE Select	NP_002058.2:p.Gln209Pro