Canonical Allele Identifier: CA138246

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46391
• ClinVar RCV Id: RCV001852826 ; RCV000039647
• dbSNP Id: rs397517439
• ExAC: 5:89923209 G / A
• gnomAD v2: 5-89923209-G-A
• gnomAD v3: 5-90627392-G-A
• gnomAD v4: 5-90627392-G-A
• MyVariant Identifiers: chr5:g.89923209G>A (hg19) ; chr5:g.90627392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627392G>A , CM000667.2:g.90627392G>A	GRCh38
NC_000005.9:g.89923209G>A , CM000667.1:g.89923209G>A	GRCh37
NC_000005.8:g.89958965G>A	NCBI36
NG_007083.1:g.73593G>A
NG_007083.2:g.103049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.854G>A MANE Select	ENSP00000384582.2:p.Arg285His
ENST00000640083.1:n.559G>A
ENST00000640109.1:n.950G>A
ENST00000640281.1:n.913G>A
ENST00000405460.6:c.854G>A	ENSP00000384582.2:p.Arg285His
NM_032119.3:c.854G>A	NP_115495.3:p.Arg285His
NR_003149.1:n.950G>A
XM_011543675.1:c.854G>A	XP_011541977.1:p.Arg285His
XM_011543676.1:c.854G>A	XP_011541978.1:p.Arg285His
XM_011543678.1:c.854G>A	XP_011541980.1:p.Arg285His
XM_011543679.1:c.854G>A	XP_011541981.1:p.Arg285His
NM_032119.4:c.854G>A MANE Select	NP_115495.3:p.Arg285His
XM_017009963.2:c.854G>A	XP_016865452.1:p.Arg285His
XM_017009964.2:c.854G>A	XP_016865453.1:p.Arg285His
XM_017009965.1:c.851G>A	XP_016865454.1:p.Arg284His
XM_017009966.2:c.854G>A	XP_016865455.1:p.Arg285His
XM_017009967.1:c.758G>A	XP_016865456.1:p.Arg253His
XM_017009968.2:c.854G>A	XP_016865457.1:p.Arg285His
XM_017009969.2:c.854G>A	XP_016865458.1:p.Arg285His
XM_017009970.2:c.854G>A	XP_016865459.1:p.Arg285His
XM_017009971.2:c.854G>A	XP_016865460.1:p.Arg285His
XM_017009974.2:c.854G>A	XP_016865463.1:p.Arg285His
NR_003149.2:n.953G>A