Canonical Allele Identifier: CA122798476

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1429648
• ClinVar RCV Id: RCV001950135
• dbSNP Id: rs889312020
• gnomAD v2: 5-90050909-A-G
• gnomAD v3: 5-90755092-A-G
• gnomAD v4: 5-90755092-A-G
• MyVariant Identifiers: chr5:g.90050909A>G (hg19) ; chr5:g.90755092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755092A>G , CM000667.2:g.90755092A>G	GRCh38
NC_000005.9:g.90050909A>G , CM000667.1:g.90050909A>G	GRCh37
NC_000005.8:g.90086665A>G	NCBI36
NG_007083.1:g.201293A>G
NG_007083.2:g.230749A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11487A>G MANE Select	ENSP00000384582.2:p.Gln3829=
ENST00000425867.3:c.618A>G	ENSP00000392618.3:p.Gln206=
ENST00000639431.1:c.265+78883A>G	ENSP00000491057.1:n.265+78883A>G
ENST00000640374.1:n.4631A>G
ENST00000640464.1:n.1906A>G
ENST00000405460.6:c.11487A>G	ENSP00000384582.2:p.Gln3829=
ENST00000509621.1:c.4184A>G
NM_032119.3:c.11487A>G	NP_115495.3:p.Gln3829=
NR_003149.1:n.11500A>G
XM_011543675.1:c.11484A>G	XP_011541977.1:p.Gln3828=
XM_011543676.1:c.11406A>G	XP_011541978.1:p.Gln3802=
XM_011543677.1:c.8790A>G	XP_011541979.1:p.Gln2930=
XM_011543678.1:c.11487A>G	XP_011541980.1:p.Gln3829=
NM_032119.4:c.11487A>G MANE Select	NP_115495.3:p.Gln3829=
XM_017009963.2:c.11508A>G	XP_016865452.1:p.Gln3836=
XM_017009964.2:c.11505A>G	XP_016865453.1:p.Gln3835=
XM_017009965.1:c.11505A>G	XP_016865454.1:p.Gln3835=
XM_017009966.2:c.11427A>G	XP_016865455.1:p.Gln3809=
XM_017009967.1:c.11412A>G	XP_016865456.1:p.Gln3804=
XM_017009968.2:c.11508A>G	XP_016865457.1:p.Gln3836=
XM_017009969.2:c.11508A>G	XP_016865458.1:p.Gln3836=
XM_017009970.2:c.11508A>G	XP_016865459.1:p.Gln3836=
XM_017009971.2:c.11508A>G	XP_016865460.1:p.Gln3836=
XM_017009972.1:c.4626A>G	XP_016865461.1:p.Gln1542=
XM_017009973.1:c.4605A>G	XP_016865462.1:p.Gln1535=
NR_003149.2:n.11503A>G