Canonical Allele Identifier: CA3339966

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 765115
• ClinVar RCV Id: RCV000943498
• dbSNP Id: rs376191074
• ExAC: 5:89988592 T / G
• gnomAD v2: 5-89988592-T-G
• gnomAD v3: 5-90692775-T-G
• gnomAD v4: 5-90692775-T-G
• MyVariant Identifiers: chr5:g.89988592T>G (hg19) ; chr5:g.90692775T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692775T>G , CM000667.2:g.90692775T>G	GRCh38
NC_000005.9:g.89988592T>G , CM000667.1:g.89988592T>G	GRCh37
NC_000005.8:g.90024348T>G	NCBI36
NG_007083.1:g.138976T>G
NG_007083.2:g.168432T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7122T>G MANE Select	ENSP00000384582.2:p.Thr2374=
ENST00000639431.1:c.265+16566T>G	ENSP00000491057.1:n.265+16566T>G
ENST00000639473.1:n.2581T>G
ENST00000640012.1:c.929T>G
ENST00000640374.1:n.266T>G
ENST00000640403.1:c.4413T>G	ENSP00000492531.1:p.Thr1471=
ENST00000640779.1:c.1851T>G
ENST00000405460.6:c.7122T>G	ENSP00000384582.2:p.Thr2374=
NM_032119.3:c.7122T>G	NP_115495.3:p.Thr2374=
NR_003149.1:n.7135T>G
XM_011543675.1:c.7119T>G	XP_011541977.1:p.Thr2373=
XM_011543676.1:c.7041T>G	XP_011541978.1:p.Thr2347=
XM_011543677.1:c.4425T>G	XP_011541979.1:p.Thr1475=
XM_011543678.1:c.7122T>G	XP_011541980.1:p.Thr2374=
XM_011543679.1:c.7122T>G	XP_011541981.1:p.Thr2374=
NM_032119.4:c.7122T>G MANE Select	NP_115495.3:p.Thr2374=
XM_017009963.2:c.7122T>G	XP_016865452.1:p.Thr2374=
XM_017009964.2:c.7119T>G	XP_016865453.1:p.Thr2373=
XM_017009965.1:c.7119T>G	XP_016865454.1:p.Thr2373=
XM_017009966.2:c.7041T>G	XP_016865455.1:p.Thr2347=
XM_017009967.1:c.7026T>G	XP_016865456.1:p.Thr2342=
XM_017009968.2:c.7122T>G	XP_016865457.1:p.Thr2374=
XM_017009969.2:c.7122T>G	XP_016865458.1:p.Thr2374=
XM_017009970.2:c.7122T>G	XP_016865459.1:p.Thr2374=
XM_017009971.2:c.7122T>G	XP_016865460.1:p.Thr2374=
XM_017009972.1:c.240T>G	XP_016865461.1:p.Thr80=
XM_017009973.1:c.240T>G	XP_016865462.1:p.Thr80=
XM_017009974.2:c.7122T>G	XP_016865463.1:p.Thr2374=
NR_003149.2:n.7138T>G