Canonical Allele Identifier: CA138073

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46294
• ClinVar RCV Id: RCV001156036 ; RCV001523052 ; RCV000039550
• dbSNP Id: rs187039736
• ExAC: 5:90159685 G / A
• gnomAD v2: 5-90159685-G-A
• gnomAD v3: 5-90863868-G-A
• gnomAD v4: 5-90863868-G-A
• MyVariant Identifiers: chr5:g.90159685G>A (hg19) ; chr5:g.90863868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90863868G>A , CM000667.2:g.90863868G>A	GRCh38
NC_000005.9:g.90159685G>A , CM000667.1:g.90159685G>A	GRCh37
NC_000005.8:g.90195441G>A	NCBI36
NG_007083.1:g.310069G>A
NG_007083.2:g.339525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.17856+11G>A MANE Select	ENSP00000384582.2:n.17856+11G>A
ENST00000425867.3:c.6810+11G>A	ENSP00000392618.3:n.6810+11G>A
ENST00000638510.1:n.5123+11G>A
ENST00000638990.1:c.1068+11G>A
ENST00000639431.1:c.266-121476G>A	ENSP00000491057.1:n.266-121476G>A
ENST00000640407.1:c.4305+11G>A	ENSP00000491425.1:n.4305+11G>A
ENST00000405460.6:c.17856+11G>A	ENSP00000384582.2:n.17856+11G>A
ENST00000425867.2:c.4839+11G>A	ENSP00000392618.2:n.4839+11G>A
NM_032119.3:c.17856+11G>A	NP_115495.3:n.17856+11G>A
NR_003149.1:n.17869+11G>A
XM_011543675.1:c.17853+11G>A	XP_011541977.1:n.17853+11G>A
XM_011543676.1:c.17775+11G>A	XP_011541978.1:n.17775+11G>A
XM_011543677.1:c.15159+11G>A	XP_011541979.1:n.15159+11G>A
NM_032119.4:c.17856+11G>A MANE Select	NP_115495.3:n.17856+11G>A
XM_017009963.2:c.17877+11G>A	XP_016865452.1:n.17877+11G>A
XM_017009964.2:c.17874+11G>A	XP_016865453.1:n.17874+11G>A
XM_017009965.1:c.17874+11G>A	XP_016865454.1:n.17874+11G>A
XM_017009966.2:c.17796+11G>A	XP_016865455.1:n.17796+11G>A
XM_017009967.1:c.17781+11G>A	XP_016865456.1:n.17781+11G>A
XM_017009968.2:c.17697+11G>A	XP_016865457.1:n.17697+11G>A
XM_017009969.2:c.17877+11G>A	XP_016865458.1:n.17877+11G>A
XM_017009972.1:c.10995+11G>A	XP_016865461.1:n.10995+11G>A
XM_017009973.1:c.10974+11G>A	XP_016865462.1:n.10974+11G>A
NR_003149.2:n.17872+11G>A