Canonical Allele Identifier: CA445404150

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2703691
• ClinVar RCV Id: RCV003579447
• gnomAD v4: 5-90755122-A-G
• MyVariant Identifiers: chr5:g.90050939A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755122A>G , CM000667.2:g.90755122A>G	GRCh38
NC_000005.9:g.90050939A>G , CM000667.1:g.90050939A>G	GRCh37
NC_000005.8:g.90086695A>G	NCBI36
NG_007083.1:g.201323A>G
NG_007083.2:g.230779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11517A>G MANE Select	ENSP00000384582.2:p.Gln3839=
ENST00000425867.3:c.648A>G	ENSP00000392618.3:p.Gln216=
ENST00000639431.1:c.265+78913A>G	ENSP00000491057.1:n.265+78913A>G
ENST00000640374.1:n.4661A>G
ENST00000640464.1:n.1936A>G
ENST00000405460.6:c.11517A>G	ENSP00000384582.2:p.Gln3839=
ENST00000509621.1:c.4214A>G
NM_032119.3:c.11517A>G	NP_115495.3:p.Gln3839=
NR_003149.1:n.11530A>G
XM_011543675.1:c.11514A>G	XP_011541977.1:p.Gln3838=
XM_011543676.1:c.11436A>G	XP_011541978.1:p.Gln3812=
XM_011543677.1:c.8820A>G	XP_011541979.1:p.Gln2940=
XM_011543678.1:c.11517A>G	XP_011541980.1:p.Gln3839=
NM_032119.4:c.11517A>G MANE Select	NP_115495.3:p.Gln3839=
XM_017009963.2:c.11538A>G	XP_016865452.1:p.Gln3846=
XM_017009964.2:c.11535A>G	XP_016865453.1:p.Gln3845=
XM_017009965.1:c.11535A>G	XP_016865454.1:p.Gln3845=
XM_017009966.2:c.11457A>G	XP_016865455.1:p.Gln3819=
XM_017009967.1:c.11442A>G	XP_016865456.1:p.Gln3814=
XM_017009968.2:c.11538A>G	XP_016865457.1:p.Gln3846=
XM_017009969.2:c.11538A>G	XP_016865458.1:p.Gln3846=
XM_017009970.2:c.11538A>G	XP_016865459.1:p.Gln3846=
XM_017009971.2:c.11538A>G	XP_016865460.1:p.Gln3846=
XM_017009972.1:c.4656A>G	XP_016865461.1:p.Gln1552=
XM_017009973.1:c.4635A>G	XP_016865462.1:p.Gln1545=
NR_003149.2:n.11533A>G