Canonical Allele Identifier: CA3342213

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 228715
• ClinVar RCV Id: RCV000215082 ; RCV000726656 ; RCV001797069
• dbSNP Id: rs200907244
• ExAC: 5:90136423 G / A
• gnomAD v2: 5-90136423-G-A
• gnomAD v3: 5-90840606-G-A
• gnomAD v4: 5-90840606-G-A
• COSMIC: COSM39236
• MyVariant Identifiers: chr5:g.90136423G>A (hg19) ; chr5:g.90840606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90840606G>A , CM000667.2:g.90840606G>A	GRCh38
NC_000005.9:g.90136423G>A , CM000667.1:g.90136423G>A	GRCh37
NC_000005.8:g.90172179G>A	NCBI36
NG_007083.1:g.286807G>A
NG_007083.2:g.316263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16640G>A MANE Select	ENSP00000384582.2:p.Arg5547His
ENST00000425867.3:c.5594G>A	ENSP00000392618.3:p.Arg1865His
ENST00000638510.1:n.3907G>A
ENST00000639431.1:c.266-144738G>A	ENSP00000491057.1:n.266-144738G>A
ENST00000640061.1:n.157G>A
ENST00000640407.1:c.3089G>A	ENSP00000491425.1:n.3089G>A
ENST00000405460.6:c.16640G>A	ENSP00000384582.2:p.Arg5547His
ENST00000425867.2:c.3623G>A	ENSP00000392618.2:p.Arg1208His
NM_032119.3:c.16640G>A	NP_115495.3:p.Arg5547His
NR_003149.1:n.16653G>A
XM_011543675.1:c.16637G>A	XP_011541977.1:p.Arg5546His
XM_011543676.1:c.16559G>A	XP_011541978.1:p.Arg5520His
XM_011543677.1:c.13943G>A	XP_011541979.1:p.Arg4648His
NM_032119.4:c.16640G>A MANE Select	NP_115495.3:p.Arg5547His
XM_017009963.2:c.16661G>A	XP_016865452.1:p.Arg5554His
XM_017009964.2:c.16658G>A	XP_016865453.1:p.Arg5553His
XM_017009965.1:c.16658G>A	XP_016865454.1:p.Arg5553His
XM_017009966.2:c.16580G>A	XP_016865455.1:p.Arg5527His
XM_017009967.1:c.16565G>A	XP_016865456.1:p.Arg5522His
XM_017009968.2:c.16481G>A	XP_016865457.1:p.Arg5494His
XM_017009969.2:c.16661G>A	XP_016865458.1:p.Arg5554His
XM_017009972.1:c.9779G>A	XP_016865461.1:p.Arg3260His
XM_017009973.1:c.9758G>A	XP_016865462.1:p.Arg3253His
NR_003149.2:n.16656G>A