Canonical Allele Identifier: CA184684

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 179571
• ClinVar RCV Id: RCV000156365 ; RCV000724676 ; RCV001153220 ; RCV004019877
• dbSNP Id: rs375122809
• ExAC: 5:90079717 G / A
• gnomAD v2: 5-90079717-G-A
• gnomAD v3: 5-90783900-G-A
• gnomAD v4: 5-90783900-G-A
• MyVariant Identifiers: chr5:g.90079717G>A (hg19) ; chr5:g.90783900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90783900G>A , CM000667.2:g.90783900G>A	GRCh38
NC_000005.9:g.90079717G>A , CM000667.1:g.90079717G>A	GRCh37
NC_000005.8:g.90115473G>A	NCBI36
NG_007083.1:g.230101G>A
NG_007083.2:g.259557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.13496G>A MANE Select	ENSP00000384582.2:p.Arg4499His
ENST00000425867.3:c.2450G>A	ENSP00000392618.3:p.Arg817His
ENST00000638510.1:n.763G>A
ENST00000638975.1:c.125G>A	ENSP00000492630.1:p.Arg42His
ENST00000639431.1:c.265+107691G>A	ENSP00000491057.1:n.265+107691G>A
ENST00000405460.6:c.13496G>A	ENSP00000384582.2:p.Arg4499His
ENST00000425867.2:c.479G>A	ENSP00000392618.2:p.Arg160His
NM_032119.3:c.13496G>A	NP_115495.3:p.Arg4499His
NR_003149.1:n.13509G>A
XM_011543675.1:c.13493G>A	XP_011541977.1:p.Arg4498His
XM_011543676.1:c.13415G>A	XP_011541978.1:p.Arg4472His
XM_011543677.1:c.10799G>A	XP_011541979.1:p.Arg3600His
XM_011543678.1:c.13496G>A	XP_011541980.1:p.Arg4499His
NM_032119.4:c.13496G>A MANE Select	NP_115495.3:p.Arg4499His
XM_017009963.2:c.13517G>A	XP_016865452.1:p.Arg4506His
XM_017009964.2:c.13514G>A	XP_016865453.1:p.Arg4505His
XM_017009965.1:c.13514G>A	XP_016865454.1:p.Arg4505His
XM_017009966.2:c.13436G>A	XP_016865455.1:p.Arg4479His
XM_017009967.1:c.13421G>A	XP_016865456.1:p.Arg4474His
XM_017009968.2:c.13517G>A	XP_016865457.1:p.Arg4506His
XM_017009969.2:c.13517G>A	XP_016865458.1:p.Arg4506His
XM_017009970.2:c.13517G>A	XP_016865459.1:p.Arg4506His
XM_017009971.2:c.13517G>A	XP_016865460.1:p.Arg4506His
XM_017009972.1:c.6635G>A	XP_016865461.1:p.Arg2212His
XM_017009973.1:c.6614G>A	XP_016865462.1:p.Arg2205His
NR_003149.2:n.13512G>A