Canonical Allele Identifier: CA360366803

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2963142
• ClinVar RCV Id: RCV003822796
• dbSNP Id: rs1266660894
• gnomAD v2: 5-90050901-G-A
• gnomAD v3: 5-90755084-G-A
• gnomAD v4: 5-90755084-G-A
• MyVariant Identifiers: chr5:g.90050901G>A (hg19) ; chr5:g.90755084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755084G>A , CM000667.2:g.90755084G>A	GRCh38
NC_000005.9:g.90050901G>A , CM000667.1:g.90050901G>A	GRCh37
NC_000005.8:g.90086657G>A	NCBI36
NG_007083.1:g.201285G>A
NG_007083.2:g.230741G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11479G>A MANE Select	ENSP00000384582.2:p.Asp3827Asn
ENST00000425867.3:c.610G>A	ENSP00000392618.3:p.Asp204Asn
ENST00000639431.1:c.265+78875G>A	ENSP00000491057.1:n.265+78875G>A
ENST00000640374.1:n.4623G>A
ENST00000640464.1:n.1898G>A
ENST00000405460.6:c.11479G>A	ENSP00000384582.2:p.Asp3827Asn
ENST00000509621.1:c.4176G>A
NM_032119.3:c.11479G>A	NP_115495.3:p.Asp3827Asn
NR_003149.1:n.11492G>A
XM_011543675.1:c.11476G>A	XP_011541977.1:p.Asp3826Asn
XM_011543676.1:c.11398G>A	XP_011541978.1:p.Asp3800Asn
XM_011543677.1:c.8782G>A	XP_011541979.1:p.Asp2928Asn
XM_011543678.1:c.11479G>A	XP_011541980.1:p.Asp3827Asn
NM_032119.4:c.11479G>A MANE Select	NP_115495.3:p.Asp3827Asn
XM_017009963.2:c.11500G>A	XP_016865452.1:p.Asp3834Asn
XM_017009964.2:c.11497G>A	XP_016865453.1:p.Asp3833Asn
XM_017009965.1:c.11497G>A	XP_016865454.1:p.Asp3833Asn
XM_017009966.2:c.11419G>A	XP_016865455.1:p.Asp3807Asn
XM_017009967.1:c.11404G>A	XP_016865456.1:p.Asp3802Asn
XM_017009968.2:c.11500G>A	XP_016865457.1:p.Asp3834Asn
XM_017009969.2:c.11500G>A	XP_016865458.1:p.Asp3834Asn
XM_017009970.2:c.11500G>A	XP_016865459.1:p.Asp3834Asn
XM_017009971.2:c.11500G>A	XP_016865460.1:p.Asp3834Asn
XM_017009972.1:c.4618G>A	XP_016865461.1:p.Asp1540Asn
XM_017009973.1:c.4597G>A	XP_016865462.1:p.Asp1533Asn
NR_003149.2:n.11495G>A