Canonical Allele Identifier: CA3342294

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 288997
• ClinVar RCV Id: RCV000710437 ; RCV001153445
• dbSNP Id: rs201073459
• ExAC: 5:90144542 G / A
• gnomAD v2: 5-90144542-G-A
• gnomAD v3: 5-90848725-G-A
• gnomAD v4: 5-90848725-G-A
• MyVariant Identifiers: chr5:g.90144542G>A (hg19) ; chr5:g.90848725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90848725G>A , CM000667.2:g.90848725G>A	GRCh38
NC_000005.9:g.90144542G>A , CM000667.1:g.90144542G>A	GRCh37
NC_000005.8:g.90180298G>A	NCBI36
NG_007083.1:g.294926G>A
NG_007083.2:g.324382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.17108G>A MANE Select	ENSP00000384582.2:p.Arg5703His
ENST00000425867.3:c.6062G>A	ENSP00000392618.3:p.Arg2021His
ENST00000505845.2:n.299G>A
ENST00000638510.1:n.4375G>A
ENST00000638990.1:c.129G>A
ENST00000639431.1:c.266-136619G>A	ENSP00000491057.1:n.266-136619G>A
ENST00000640407.1:c.3557G>A	ENSP00000491425.1:n.3557G>A
ENST00000405460.6:c.17108G>A	ENSP00000384582.2:p.Arg5703His
ENST00000425867.2:c.4091G>A	ENSP00000392618.2:p.Arg1364His
ENST00000505845.1:n.299G>A
NM_032119.3:c.17108G>A	NP_115495.3:p.Arg5703His
NR_003149.1:n.17121G>A
XM_011543675.1:c.17105G>A	XP_011541977.1:p.Arg5702His
XM_011543676.1:c.17027G>A	XP_011541978.1:p.Arg5676His
XM_011543677.1:c.14411G>A	XP_011541979.1:p.Arg4804His
NM_032119.4:c.17108G>A MANE Select	NP_115495.3:p.Arg5703His
XM_017009963.2:c.17129G>A	XP_016865452.1:p.Arg5710His
XM_017009964.2:c.17126G>A	XP_016865453.1:p.Arg5709His
XM_017009965.1:c.17126G>A	XP_016865454.1:p.Arg5709His
XM_017009966.2:c.17048G>A	XP_016865455.1:p.Arg5683His
XM_017009967.1:c.17033G>A	XP_016865456.1:p.Arg5678His
XM_017009968.2:c.16949G>A	XP_016865457.1:p.Arg5650His
XM_017009969.2:c.17129G>A	XP_016865458.1:p.Arg5710His
XM_017009972.1:c.10247G>A	XP_016865461.1:p.Arg3416His
XM_017009973.1:c.10226G>A	XP_016865462.1:p.Arg3409His
NR_003149.2:n.17124G>A