Canonical Allele Identifier: CA445404224

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2803043
• ClinVar RCV Id: RCV003679304
• gnomAD v4: 5-90755167-C-G
• MyVariant Identifiers: chr5:g.90050984C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755167C>G , CM000667.2:g.90755167C>G	GRCh38
NC_000005.9:g.90050984C>G , CM000667.1:g.90050984C>G	GRCh37
NC_000005.8:g.90086740C>G	NCBI36
NG_007083.1:g.201368C>G
NG_007083.2:g.230824C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11562C>G MANE Select	ENSP00000384582.2:p.Ala3854=
ENST00000425867.3:c.693C>G	ENSP00000392618.3:p.Ala231=
ENST00000639431.1:c.265+78958C>G	ENSP00000491057.1:n.265+78958C>G
ENST00000640374.1:n.4706C>G
ENST00000640464.1:n.1981C>G
ENST00000405460.6:c.11562C>G	ENSP00000384582.2:p.Ala3854=
ENST00000509621.1:c.4259C>G
NM_032119.3:c.11562C>G	NP_115495.3:p.Ala3854=
NR_003149.1:n.11575C>G
XM_011543675.1:c.11559C>G	XP_011541977.1:p.Ala3853=
XM_011543676.1:c.11481C>G	XP_011541978.1:p.Ala3827=
XM_011543677.1:c.8865C>G	XP_011541979.1:p.Ala2955=
XM_011543678.1:c.11562C>G	XP_011541980.1:p.Ala3854=
NM_032119.4:c.11562C>G MANE Select	NP_115495.3:p.Ala3854=
XM_017009963.2:c.11583C>G	XP_016865452.1:p.Ala3861=
XM_017009964.2:c.11580C>G	XP_016865453.1:p.Ala3860=
XM_017009965.1:c.11580C>G	XP_016865454.1:p.Ala3860=
XM_017009966.2:c.11502C>G	XP_016865455.1:p.Ala3834=
XM_017009967.1:c.11487C>G	XP_016865456.1:p.Ala3829=
XM_017009968.2:c.11583C>G	XP_016865457.1:p.Ala3861=
XM_017009969.2:c.11583C>G	XP_016865458.1:p.Ala3861=
XM_017009970.2:c.11583C>G	XP_016865459.1:p.Ala3861=
XM_017009971.2:c.11583C>G	XP_016865460.1:p.Ala3861=
XM_017009972.1:c.4701C>G	XP_016865461.1:p.Ala1567=
XM_017009973.1:c.4680C>G	XP_016865462.1:p.Ala1560=
NR_003149.2:n.11578C>G