Canonical Allele Identifier: CA138190

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46360
• ClinVar RCV Id: RCV000039616 ; RCV001151574 ; RCV001509775 ; RCV002496634
• dbSNP Id: rs2366926
• ExAC: 5:89988504 A / G
• gnomAD v2: 5-89988504-A-G
• gnomAD v3: 5-90692687-A-G
• gnomAD v4: 5-90692687-A-G
• MyVariant Identifiers: chr5:g.89988504A>G (hg19) ; chr5:g.90692687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692687A>G , CM000667.2:g.90692687A>G	GRCh38
NC_000005.9:g.89988504A>G , CM000667.1:g.89988504A>G	GRCh37
NC_000005.8:g.90024260A>G	NCBI36
NG_007083.1:g.138888A>G
NG_007083.2:g.168344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7034A>G MANE Select	ENSP00000384582.2:p.Asn2345Ser
ENST00000639431.1:c.265+16478A>G	ENSP00000491057.1:n.265+16478A>G
ENST00000639473.1:n.2493A>G
ENST00000640012.1:c.841A>G
ENST00000640374.1:n.178A>G
ENST00000640403.1:c.4325A>G	ENSP00000492531.1:p.Asn1442Ser
ENST00000640779.1:c.1763A>G
ENST00000405460.6:c.7034A>G	ENSP00000384582.2:p.Asn2345Ser
NM_032119.3:c.7034A>G	NP_115495.3:p.Asn2345Ser
NR_003149.1:n.7047A>G
XM_011543675.1:c.7031A>G	XP_011541977.1:p.Asn2344Ser
XM_011543676.1:c.6953A>G	XP_011541978.1:p.Asn2318Ser
XM_011543677.1:c.4337A>G	XP_011541979.1:p.Asn1446Ser
XM_011543678.1:c.7034A>G	XP_011541980.1:p.Asn2345Ser
XM_011543679.1:c.7034A>G	XP_011541981.1:p.Asn2345Ser
NM_032119.4:c.7034A>G MANE Select	NP_115495.3:p.Asn2345Ser
XM_017009963.2:c.7034A>G	XP_016865452.1:p.Asn2345Ser
XM_017009964.2:c.7031A>G	XP_016865453.1:p.Asn2344Ser
XM_017009965.1:c.7031A>G	XP_016865454.1:p.Asn2344Ser
XM_017009966.2:c.6953A>G	XP_016865455.1:p.Asn2318Ser
XM_017009967.1:c.6938A>G	XP_016865456.1:p.Asn2313Ser
XM_017009968.2:c.7034A>G	XP_016865457.1:p.Asn2345Ser
XM_017009969.2:c.7034A>G	XP_016865458.1:p.Asn2345Ser
XM_017009970.2:c.7034A>G	XP_016865459.1:p.Asn2345Ser
XM_017009971.2:c.7034A>G	XP_016865460.1:p.Asn2345Ser
XM_017009972.1:c.152A>G	XP_016865461.1:p.Asn51Ser
XM_017009973.1:c.152A>G	XP_016865462.1:p.Asn51Ser
XM_017009974.2:c.7034A>G	XP_016865463.1:p.Asn2345Ser
NR_003149.2:n.7050A>G