Canonical Allele Identifier: CA3340502

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1203452
• ClinVar RCV Id: RCV001569487
• dbSNP Id: rs549391249
• ExAC: 5:90012595 C / A
• gnomAD v2: 5-90012595-C-A
• gnomAD v3: 5-90716778-C-A
• gnomAD v4: 5-90716778-C-A
• MyVariant Identifiers: chr5:g.90012595C>A (hg19) ; chr5:g.90716778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716778C>A , CM000667.2:g.90716778C>A	GRCh38
NC_000005.9:g.90012595C>A , CM000667.1:g.90012595C>A	GRCh37
NC_000005.8:g.90048351C>A	NCBI36
NG_007083.1:g.162979C>A
NG_007083.2:g.192435C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9447+49C>A MANE Select	ENSP00000384582.2:n.9447+49C>A
ENST00000639431.1:c.265+40569C>A	ENSP00000491057.1:n.265+40569C>A
ENST00000639473.1:n.4955C>A
ENST00000640374.1:n.2591+49C>A
ENST00000640779.1:c.4176+49C>A
ENST00000405460.6:c.9447+49C>A	ENSP00000384582.2:n.9447+49C>A
ENST00000509621.1:c.2144+49C>A
NM_032119.3:c.9447+49C>A	NP_115495.3:n.9447+49C>A
NR_003149.1:n.9460+49C>A
XM_011543675.1:c.9444+49C>A	XP_011541977.1:n.9444+49C>A
XM_011543676.1:c.9366+49C>A	XP_011541978.1:n.9366+49C>A
XM_011543677.1:c.6750+49C>A	XP_011541979.1:n.6750+49C>A
XM_011543678.1:c.9447+49C>A	XP_011541980.1:n.9447+49C>A
XM_011543679.1:c.9447+49C>A	XP_011541981.1:n.9447+49C>A
XR_948560.1:n.272-969G>T
NM_032119.4:c.9447+49C>A MANE Select	NP_115495.3:n.9447+49C>A
XM_017009963.2:c.9468+49C>A	XP_016865452.1:n.9468+49C>A
XM_017009964.2:c.9465+49C>A	XP_016865453.1:n.9465+49C>A
XM_017009965.1:c.9465+49C>A	XP_016865454.1:n.9465+49C>A
XM_017009966.2:c.9387+49C>A	XP_016865455.1:n.9387+49C>A
XM_017009967.1:c.9372+49C>A	XP_016865456.1:n.9372+49C>A
XM_017009968.2:c.9468+49C>A	XP_016865457.1:n.9468+49C>A
XM_017009969.2:c.9468+49C>A	XP_016865458.1:n.9468+49C>A
XM_017009970.2:c.9468+49C>A	XP_016865459.1:n.9468+49C>A
XM_017009971.2:c.9468+49C>A	XP_016865460.1:n.9468+49C>A
XM_017009972.1:c.2586+49C>A	XP_016865461.1:n.2586+49C>A
XM_017009973.1:c.2565+49C>A	XP_016865462.1:n.2565+49C>A
XM_017009974.2:c.9468+49C>A	XP_016865463.1:n.9468+49C>A
XR_001742802.1:n.2523-969G>T
NR_003149.2:n.9463+49C>A