Canonical Allele Identifier: CA3340992

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 957750
• ClinVar RCV Id: RCV001230792
• dbSNP Id: rs372334906
• ExAC: 5:90051002 G / A
• gnomAD v2: 5-90051002-G-A
• gnomAD v3: 5-90755185-G-A
• gnomAD v4: 5-90755185-G-A
• MyVariant Identifiers: chr5:g.90051002G>A (hg19) ; chr5:g.90755185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755185G>A , CM000667.2:g.90755185G>A	GRCh38
NC_000005.9:g.90051002G>A , CM000667.1:g.90051002G>A	GRCh37
NC_000005.8:g.90086758G>A	NCBI36
NG_007083.1:g.201386G>A
NG_007083.2:g.230842G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11580G>A MANE Select	ENSP00000384582.2:p.Pro3860=
ENST00000425867.3:c.711G>A	ENSP00000392618.3:p.Pro237=
ENST00000639431.1:c.265+78976G>A	ENSP00000491057.1:n.265+78976G>A
ENST00000640374.1:n.4724G>A
ENST00000640464.1:n.1999G>A
ENST00000405460.6:c.11580G>A	ENSP00000384582.2:p.Pro3860=
ENST00000509621.1:c.4277G>A
NM_032119.3:c.11580G>A	NP_115495.3:p.Pro3860=
NR_003149.1:n.11593G>A
XM_011543675.1:c.11577G>A	XP_011541977.1:p.Pro3859=
XM_011543676.1:c.11499G>A	XP_011541978.1:p.Pro3833=
XM_011543677.1:c.8883G>A	XP_011541979.1:p.Pro2961=
XM_011543678.1:c.11580G>A	XP_011541980.1:p.Pro3860=
NM_032119.4:c.11580G>A MANE Select	NP_115495.3:p.Pro3860=
XM_017009963.2:c.11601G>A	XP_016865452.1:p.Pro3867=
XM_017009964.2:c.11598G>A	XP_016865453.1:p.Pro3866=
XM_017009965.1:c.11598G>A	XP_016865454.1:p.Pro3866=
XM_017009966.2:c.11520G>A	XP_016865455.1:p.Pro3840=
XM_017009967.1:c.11505G>A	XP_016865456.1:p.Pro3835=
XM_017009968.2:c.11601G>A	XP_016865457.1:p.Pro3867=
XM_017009969.2:c.11601G>A	XP_016865458.1:p.Pro3867=
XM_017009970.2:c.11601G>A	XP_016865459.1:p.Pro3867=
XM_017009971.2:c.11601G>A	XP_016865460.1:p.Pro3867=
XM_017009972.1:c.4719G>A	XP_016865461.1:p.Pro1573=
XM_017009973.1:c.4698G>A	XP_016865462.1:p.Pro1566=
NR_003149.2:n.11596G>A