Canonical Allele Identifier: CA3340840

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1618910
• ClinVar RCV Id: RCV002086337
• dbSNP Id: rs575269452
• ExAC: 5:90041495 A / G
• gnomAD v2: 5-90041495-A-G
• gnomAD v3: 5-90745678-A-G
• gnomAD v4: 5-90745678-A-G
• MyVariant Identifiers: chr5:g.90041495A>G (hg19) ; chr5:g.90745678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745678A>G , CM000667.2:g.90745678A>G	GRCh38
NC_000005.9:g.90041495A>G , CM000667.1:g.90041495A>G	GRCh37
NC_000005.8:g.90077251A>G	NCBI36
NG_007083.1:g.191879A>G
NG_007083.2:g.221335A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10857A>G MANE Select	ENSP00000384582.2:p.Glu3619=
ENST00000639431.1:c.265+69469A>G	ENSP00000491057.1:n.265+69469A>G
ENST00000640374.1:n.4001A>G
ENST00000640464.1:n.1276A>G
ENST00000405460.6:c.10857A>G	ENSP00000384582.2:p.Glu3619=
ENST00000509621.1:c.3554A>G
NM_032119.3:c.10857A>G	NP_115495.3:p.Glu3619=
NR_003149.1:n.10870A>G
XM_011543675.1:c.10854A>G	XP_011541977.1:p.Glu3618=
XM_011543676.1:c.10776A>G	XP_011541978.1:p.Glu3592=
XM_011543677.1:c.8160A>G	XP_011541979.1:p.Glu2720=
XM_011543678.1:c.10857A>G	XP_011541980.1:p.Glu3619=
XM_011543679.1:c.*79A>G	XP_011541981.1:n.*79A>G
NM_032119.4:c.10857A>G MANE Select	NP_115495.3:p.Glu3619=
XM_017009963.2:c.10878A>G	XP_016865452.1:p.Glu3626=
XM_017009964.2:c.10875A>G	XP_016865453.1:p.Glu3625=
XM_017009965.1:c.10875A>G	XP_016865454.1:p.Glu3625=
XM_017009966.2:c.10797A>G	XP_016865455.1:p.Glu3599=
XM_017009967.1:c.10782A>G	XP_016865456.1:p.Glu3594=
XM_017009968.2:c.10878A>G	XP_016865457.1:p.Glu3626=
XM_017009969.2:c.10878A>G	XP_016865458.1:p.Glu3626=
XM_017009970.2:c.10878A>G	XP_016865459.1:p.Glu3626=
XM_017009971.2:c.10878A>G	XP_016865460.1:p.Glu3626=
XM_017009972.1:c.3996A>G	XP_016865461.1:p.Glu1332=
XM_017009973.1:c.3975A>G	XP_016865462.1:p.Glu1325=
XM_017009974.2:c.*79A>G	XP_016865463.1:n.*79A>G
NR_003149.2:n.10873A>G