Canonical Allele Identifier: CA246474

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 198008
• ClinVar RCV Id: RCV000179197 ; RCV001153105
• dbSNP Id: rs200576500
• ExAC: 5:90052799 G / A
• gnomAD v2: 5-90052799-G-A
• gnomAD v3: 5-90756982-G-A
• gnomAD v4: 5-90756982-G-A
• COSMIC: COSM1743449
• MyVariant Identifiers: chr5:g.90052799G>A (hg19) ; chr5:g.90756982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90756982G>A , CM000667.2:g.90756982G>A	GRCh38
NC_000005.9:g.90052799G>A , CM000667.1:g.90052799G>A	GRCh37
NC_000005.8:g.90088555G>A	NCBI36
NG_007083.1:g.203183G>A
NG_007083.2:g.232639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11761G>A MANE Select	ENSP00000384582.2:p.Ala3921Thr
ENST00000425867.3:c.715G>A	ENSP00000392618.3:p.Ala239Thr
ENST00000639431.1:c.265+80773G>A	ENSP00000491057.1:n.265+80773G>A
ENST00000639884.1:n.415G>A
ENST00000640374.1:n.4728G>A
ENST00000640464.1:n.2180G>A
ENST00000405460.6:c.11761G>A	ENSP00000384582.2:p.Ala3921Thr
ENST00000509621.1:c.4458G>A
NM_032119.3:c.11761G>A	NP_115495.3:p.Ala3921Thr
NR_003149.1:n.11774G>A
XM_011543675.1:c.11758G>A	XP_011541977.1:p.Ala3920Thr
XM_011543676.1:c.11680G>A	XP_011541978.1:p.Ala3894Thr
XM_011543677.1:c.9064G>A	XP_011541979.1:p.Ala3022Thr
XM_011543678.1:c.11761G>A	XP_011541980.1:p.Ala3921Thr
NM_032119.4:c.11761G>A MANE Select	NP_115495.3:p.Ala3921Thr
XM_017009963.2:c.11782G>A	XP_016865452.1:p.Ala3928Thr
XM_017009964.2:c.11779G>A	XP_016865453.1:p.Ala3927Thr
XM_017009965.1:c.11779G>A	XP_016865454.1:p.Ala3927Thr
XM_017009966.2:c.11701G>A	XP_016865455.1:p.Ala3901Thr
XM_017009967.1:c.11686G>A	XP_016865456.1:p.Ala3896Thr
XM_017009968.2:c.11782G>A	XP_016865457.1:p.Ala3928Thr
XM_017009969.2:c.11782G>A	XP_016865458.1:p.Ala3928Thr
XM_017009970.2:c.11782G>A	XP_016865459.1:p.Ala3928Thr
XM_017009971.2:c.11782G>A	XP_016865460.1:p.Ala3928Thr
XM_017009972.1:c.4900G>A	XP_016865461.1:p.Ala1634Thr
XM_017009973.1:c.4879G>A	XP_016865462.1:p.Ala1627Thr
NR_003149.2:n.11777G>A