Canonical Allele Identifier: CA3339909

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 517498
• ClinVar RCV Id: RCV000605906 ; RCV001151571 ; RCV001509872
• dbSNP Id: rs143356203
• ExAC: 5:89986871 G / A
• gnomAD v2: 5-89986871-G-A
• gnomAD v3: 5-90691054-G-A
• gnomAD v4: 5-90691054-G-A
• MyVariant Identifiers: chr5:g.89986871G>A (hg19) ; chr5:g.90691054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90691054G>A , CM000667.2:g.90691054G>A	GRCh38
NC_000005.9:g.89986871G>A , CM000667.1:g.89986871G>A	GRCh37
NC_000005.8:g.90022627G>A	NCBI36
NG_007083.1:g.137255G>A
NG_007083.2:g.166711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6951+13G>A MANE Select	ENSP00000384582.2:n.6951+13G>A
ENST00000639431.1:c.265+14845G>A	ENSP00000491057.1:n.265+14845G>A
ENST00000639473.1:n.2410+13G>A
ENST00000640012.1:c.758+96G>A
ENST00000640374.1:n.95+13G>A
ENST00000640403.1:c.4242+13G>A	ENSP00000492531.1:n.4242+13G>A
ENST00000640779.1:c.1680+96G>A
ENST00000405460.6:c.6951+13G>A	ENSP00000384582.2:n.6951+13G>A
NM_032119.3:c.6951+13G>A	NP_115495.3:n.6951+13G>A
NR_003149.1:n.6964+96G>A
XM_011543675.1:c.6948+13G>A	XP_011541977.1:n.6948+13G>A
XM_011543676.1:c.6870+13G>A	XP_011541978.1:n.6870+13G>A
XM_011543677.1:c.4254+13G>A	XP_011541979.1:n.4254+13G>A
XM_011543678.1:c.6951+13G>A	XP_011541980.1:n.6951+13G>A
XM_011543679.1:c.6951+13G>A	XP_011541981.1:n.6951+13G>A
NM_032119.4:c.6951+13G>A MANE Select	NP_115495.3:n.6951+13G>A
XM_017009963.2:c.6951+13G>A	XP_016865452.1:n.6951+13G>A
XM_017009964.2:c.6948+13G>A	XP_016865453.1:n.6948+13G>A
XM_017009965.1:c.6948+13G>A	XP_016865454.1:n.6948+13G>A
XM_017009966.2:c.6870+13G>A	XP_016865455.1:n.6870+13G>A
XM_017009967.1:c.6855+13G>A	XP_016865456.1:n.6855+13G>A
XM_017009968.2:c.6951+13G>A	XP_016865457.1:n.6951+13G>A
XM_017009969.2:c.6951+13G>A	XP_016865458.1:n.6951+13G>A
XM_017009970.2:c.6951+13G>A	XP_016865459.1:n.6951+13G>A
XM_017009971.2:c.6951+13G>A	XP_016865460.1:n.6951+13G>A
XM_017009972.1:c.69+96G>A	XP_016865461.1:n.69+96G>A
XM_017009973.1:c.69+96G>A	XP_016865462.1:n.69+96G>A
XM_017009974.2:c.6951+13G>A	XP_016865463.1:n.6951+13G>A
NR_003149.2:n.6967+96G>A