Canonical Allele Identifier: CA15587897
Gene: GNAQ HGNC NCBI

Linked Data

ClinVar Variation Id: 1286804
ClinVar RCV Id: RCV001708429
dbSNP Id: rs1328530
gnomAD v2: 9-80409138-C-G
gnomAD v3: 9-77794222-C-G
gnomAD v4: 9-77794222-C-G
MyVariant Identifiers: chr9:g.80409138C>G (hg19) chr9:g.77794222C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794222C>G , CM000671.2:g.77794222C>G GRCh38
NC_000009.11:g.80409138C>G , CM000671.1:g.80409138C>G GRCh37
NC_000009.10:g.79598958C>G NCBI36
NG_027904.2:g.242082G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+241G>C MANE Select ENSP00000286548.4:n.735+241G>C
ENST00000286548.8:c.735+241G>C ENSP00000286548.4:n.735+241G>C
NM_002072.4:c.735+241G>C NP_002063.2:n.735+241G>C
XM_017014628.2:c.561+241G>C XP_016870117.1:n.561+241G>C
NM_002072.5:c.735+241G>C MANE Select NP_002063.2:n.735+241G>C
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