Canonical Allele Identifier: CA3341508

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 376988
• ClinVar RCV Id: RCV000433926 ; RCV000765855 ; RCV004022266 ; RCV000507824 ; RCV001153219
• dbSNP Id: rs182698253
• ExAC: 5:90079091 A / G
• gnomAD v2: 5-90079091-A-G
• gnomAD v3: 5-90783274-A-G
• gnomAD v4: 5-90783274-A-G
• MyVariant Identifiers: chr5:g.90079091A>G (hg19) ; chr5:g.90783274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90783274A>G , CM000667.2:g.90783274A>G	GRCh38
NC_000005.9:g.90079091A>G , CM000667.1:g.90079091A>G	GRCh37
NC_000005.8:g.90114847A>G	NCBI36
NG_007083.1:g.229475A>G
NG_007083.2:g.258931A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.13382A>G MANE Select	ENSP00000384582.2:p.His4461Arg
ENST00000425867.3:c.2336A>G	ENSP00000392618.3:p.His779Arg
ENST00000638510.1:n.649A>G
ENST00000638975.1:c.11A>G	ENSP00000492630.1:p.His4Arg
ENST00000639431.1:c.265+107065A>G	ENSP00000491057.1:n.265+107065A>G
ENST00000405460.6:c.13382A>G	ENSP00000384582.2:p.His4461Arg
ENST00000425867.2:c.365A>G	ENSP00000392618.2:p.His122Arg
NM_032119.3:c.13382A>G	NP_115495.3:p.His4461Arg
NR_003149.1:n.13395A>G
XM_011543675.1:c.13379A>G	XP_011541977.1:p.His4460Arg
XM_011543676.1:c.13301A>G	XP_011541978.1:p.His4434Arg
XM_011543677.1:c.10685A>G	XP_011541979.1:p.His3562Arg
XM_011543678.1:c.13382A>G	XP_011541980.1:p.His4461Arg
NM_032119.4:c.13382A>G MANE Select	NP_115495.3:p.His4461Arg
XM_017009963.2:c.13403A>G	XP_016865452.1:p.His4468Arg
XM_017009964.2:c.13400A>G	XP_016865453.1:p.His4467Arg
XM_017009965.1:c.13400A>G	XP_016865454.1:p.His4467Arg
XM_017009966.2:c.13322A>G	XP_016865455.1:p.His4441Arg
XM_017009967.1:c.13307A>G	XP_016865456.1:p.His4436Arg
XM_017009968.2:c.13403A>G	XP_016865457.1:p.His4468Arg
XM_017009969.2:c.13403A>G	XP_016865458.1:p.His4468Arg
XM_017009970.2:c.13403A>G	XP_016865459.1:p.His4468Arg
XM_017009971.2:c.13403A>G	XP_016865460.1:p.His4468Arg
XM_017009972.1:c.6521A>G	XP_016865461.1:p.His2174Arg
XM_017009973.1:c.6500A>G	XP_016865462.1:p.His2167Arg
NR_003149.2:n.13398A>G