Canonical Allele Identifier: CA445404456

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1585278
• ClinVar RCV Id: RCV002095286
• dbSNP Id: rs1221662650
• gnomAD v2: 5-89988433-G-A
• gnomAD v4: 5-90692616-G-A
• MyVariant Identifiers: chr5:g.89988433G>A (hg19) ; chr5:g.90692616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692616G>A , CM000667.2:g.90692616G>A	GRCh38
NC_000005.9:g.89988433G>A , CM000667.1:g.89988433G>A	GRCh37
NC_000005.8:g.90024189G>A	NCBI36
NG_007083.1:g.138817G>A
NG_007083.2:g.168273G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6963G>A MANE Select	ENSP00000384582.2:p.Val2321=
ENST00000639431.1:c.265+16407G>A	ENSP00000491057.1:n.265+16407G>A
ENST00000639473.1:n.2422G>A
ENST00000640012.1:c.770G>A
ENST00000640374.1:n.107G>A
ENST00000640403.1:c.4254G>A	ENSP00000492531.1:p.Val1418=
ENST00000640779.1:c.1692G>A
ENST00000405460.6:c.6963G>A	ENSP00000384582.2:p.Val2321=
NM_032119.3:c.6963G>A	NP_115495.3:p.Val2321=
NR_003149.1:n.6976G>A
XM_011543675.1:c.6960G>A	XP_011541977.1:p.Val2320=
XM_011543676.1:c.6882G>A	XP_011541978.1:p.Val2294=
XM_011543677.1:c.4266G>A	XP_011541979.1:p.Val1422=
XM_011543678.1:c.6963G>A	XP_011541980.1:p.Val2321=
XM_011543679.1:c.6963G>A	XP_011541981.1:p.Val2321=
NM_032119.4:c.6963G>A MANE Select	NP_115495.3:p.Val2321=
XM_017009963.2:c.6963G>A	XP_016865452.1:p.Val2321=
XM_017009964.2:c.6960G>A	XP_016865453.1:p.Val2320=
XM_017009965.1:c.6960G>A	XP_016865454.1:p.Val2320=
XM_017009966.2:c.6882G>A	XP_016865455.1:p.Val2294=
XM_017009967.1:c.6867G>A	XP_016865456.1:p.Val2289=
XM_017009968.2:c.6963G>A	XP_016865457.1:p.Val2321=
XM_017009969.2:c.6963G>A	XP_016865458.1:p.Val2321=
XM_017009970.2:c.6963G>A	XP_016865459.1:p.Val2321=
XM_017009971.2:c.6963G>A	XP_016865460.1:p.Val2321=
XM_017009972.1:c.81G>A	XP_016865461.1:p.Val27=
XM_017009973.1:c.81G>A	XP_016865462.1:p.Val27=
XM_017009974.2:c.6963G>A	XP_016865463.1:p.Val2321=
NR_003149.2:n.6979G>A