Canonical Allele Identifier: CA3340832

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1349814
• ClinVar RCV Id: RCV002039286
• dbSNP Id: rs748938933
• ExAC: 5:90041422 T / G
• gnomAD v2: 5-90041422-T-G
• gnomAD v3: 5-90745605-T-G
• gnomAD v4: 5-90745605-T-G
• MyVariant Identifiers: chr5:g.90041422T>G (hg19) ; chr5:g.90745605T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745605T>G , CM000667.2:g.90745605T>G	GRCh38
NC_000005.9:g.90041422T>G , CM000667.1:g.90041422T>G	GRCh37
NC_000005.8:g.90077178T>G	NCBI36
NG_007083.1:g.191806T>G
NG_007083.2:g.221262T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10784T>G MANE Select	ENSP00000384582.2:p.Ile3595Arg
ENST00000639431.1:c.265+69396T>G	ENSP00000491057.1:n.265+69396T>G
ENST00000640374.1:n.3928T>G
ENST00000640464.1:n.1203T>G
ENST00000405460.6:c.10784T>G	ENSP00000384582.2:p.Ile3595Arg
ENST00000509621.1:c.3481T>G
NM_032119.3:c.10784T>G	NP_115495.3:p.Ile3595Arg
NR_003149.1:n.10797T>G
XM_011543675.1:c.10781T>G	XP_011541977.1:p.Ile3594Arg
XM_011543676.1:c.10703T>G	XP_011541978.1:p.Ile3568Arg
XM_011543677.1:c.8087T>G	XP_011541979.1:p.Ile2696Arg
XM_011543678.1:c.10784T>G	XP_011541980.1:p.Ile3595Arg
XM_011543679.1:c.*6T>G	XP_011541981.1:n.*6T>G
NM_032119.4:c.10784T>G MANE Select	NP_115495.3:p.Ile3595Arg
XM_017009963.2:c.10805T>G	XP_016865452.1:p.Ile3602Arg
XM_017009964.2:c.10802T>G	XP_016865453.1:p.Ile3601Arg
XM_017009965.1:c.10802T>G	XP_016865454.1:p.Ile3601Arg
XM_017009966.2:c.10724T>G	XP_016865455.1:p.Ile3575Arg
XM_017009967.1:c.10709T>G	XP_016865456.1:p.Ile3570Arg
XM_017009968.2:c.10805T>G	XP_016865457.1:p.Ile3602Arg
XM_017009969.2:c.10805T>G	XP_016865458.1:p.Ile3602Arg
XM_017009970.2:c.10805T>G	XP_016865459.1:p.Ile3602Arg
XM_017009971.2:c.10805T>G	XP_016865460.1:p.Ile3602Arg
XM_017009972.1:c.3923T>G	XP_016865461.1:p.Ile1308Arg
XM_017009973.1:c.3902T>G	XP_016865462.1:p.Ile1301Arg
XM_017009974.2:c.*6T>G	XP_016865463.1:n.*6T>G
NR_003149.2:n.10800T>G