Canonical Allele Identifier: CA122802247

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 904007
• ClinVar RCV Id: RCV001151662 ; RCV001470469
• dbSNP Id: rs1026514423
• gnomAD v2: 5-89999495-A-G
• gnomAD v3: 5-90703678-A-G
• gnomAD v4: 5-90703678-A-G
• MyVariant Identifiers: chr5:g.89999495A>G (hg19) ; chr5:g.90703678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90703678A>G , CM000667.2:g.90703678A>G	GRCh38
NC_000005.9:g.89999495A>G , CM000667.1:g.89999495A>G	GRCh37
NC_000005.8:g.90035251A>G	NCBI36
NG_007083.1:g.149879A>G
NG_007083.2:g.179335A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.8169A>G MANE Select	ENSP00000384582.2:p.Gln2723=
ENST00000639431.1:c.265+27469A>G	ENSP00000491057.1:n.265+27469A>G
ENST00000639473.1:n.3628A>G
ENST00000640012.1:c.1976A>G
ENST00000640374.1:n.1313A>G
ENST00000640403.1:c.5460A>G	ENSP00000492531.1:p.Gln1820=
ENST00000640779.1:c.2898A>G
ENST00000405460.6:c.8169A>G	ENSP00000384582.2:p.Gln2723=
ENST00000509621.1:c.866A>G
NM_032119.3:c.8169A>G	NP_115495.3:p.Gln2723=
NR_003149.1:n.8182A>G
XM_011543675.1:c.8166A>G	XP_011541977.1:p.Gln2722=
XM_011543676.1:c.8088A>G	XP_011541978.1:p.Gln2696=
XM_011543677.1:c.5472A>G	XP_011541979.1:p.Gln1824=
XM_011543678.1:c.8169A>G	XP_011541980.1:p.Gln2723=
XM_011543679.1:c.8169A>G	XP_011541981.1:p.Gln2723=
NM_032119.4:c.8169A>G MANE Select	NP_115495.3:p.Gln2723=
XM_017009963.2:c.8169A>G	XP_016865452.1:p.Gln2723=
XM_017009964.2:c.8166A>G	XP_016865453.1:p.Gln2722=
XM_017009965.1:c.8166A>G	XP_016865454.1:p.Gln2722=
XM_017009966.2:c.8088A>G	XP_016865455.1:p.Gln2696=
XM_017009967.1:c.8073A>G	XP_016865456.1:p.Gln2691=
XM_017009968.2:c.8169A>G	XP_016865457.1:p.Gln2723=
XM_017009969.2:c.8169A>G	XP_016865458.1:p.Gln2723=
XM_017009970.2:c.8169A>G	XP_016865459.1:p.Gln2723=
XM_017009971.2:c.8169A>G	XP_016865460.1:p.Gln2723=
XM_017009972.1:c.1287A>G	XP_016865461.1:p.Gln429=
XM_017009973.1:c.1287A>G	XP_016865462.1:p.Gln429=
XM_017009974.2:c.8169A>G	XP_016865463.1:p.Gln2723=
NR_003149.2:n.8185A>G