Canonical Allele Identifier: CA138147

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46338
• ClinVar RCV Id: RCV000039594 ; RCV000765842 ; RCV001423929
• dbSNP Id: rs200974394
• ExAC: 5:89977183 A / G
• gnomAD v2: 5-89977183-A-G
• gnomAD v3: 5-90681366-A-G
• gnomAD v4: 5-90681366-A-G
• MyVariant Identifiers: chr5:g.89977183A>G (hg19) ; chr5:g.90681366A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90681366A>G , CM000667.2:g.90681366A>G	GRCh38
NC_000005.9:g.89977183A>G , CM000667.1:g.89977183A>G	GRCh37
NC_000005.8:g.90012939A>G	NCBI36
NG_007083.1:g.127567A>G
NG_007083.2:g.157023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.5576A>G MANE Select	ENSP00000384582.2:p.His1859Arg
ENST00000639431.1:c.265+5157A>G	ENSP00000491057.1:n.265+5157A>G
ENST00000639473.1:n.1035A>G
ENST00000640012.1:c.76A>G
ENST00000640403.1:c.2867A>G	ENSP00000492531.1:p.His956Arg
ENST00000640779.1:c.388A>G
ENST00000405460.6:c.5576A>G	ENSP00000384582.2:p.His1859Arg
NM_032119.3:c.5576A>G	NP_115495.3:p.His1859Arg
NR_003149.1:n.5672A>G
XM_011543675.1:c.5573A>G	XP_011541977.1:p.His1858Arg
XM_011543676.1:c.5495A>G	XP_011541978.1:p.His1832Arg
XM_011543677.1:c.2879A>G	XP_011541979.1:p.His960Arg
XM_011543678.1:c.5576A>G	XP_011541980.1:p.His1859Arg
XM_011543679.1:c.5576A>G	XP_011541981.1:p.His1859Arg
NM_032119.4:c.5576A>G MANE Select	NP_115495.3:p.His1859Arg
XM_017009963.2:c.5576A>G	XP_016865452.1:p.His1859Arg
XM_017009964.2:c.5573A>G	XP_016865453.1:p.His1858Arg
XM_017009965.1:c.5573A>G	XP_016865454.1:p.His1858Arg
XM_017009966.2:c.5495A>G	XP_016865455.1:p.His1832Arg
XM_017009967.1:c.5480A>G	XP_016865456.1:p.His1827Arg
XM_017009968.2:c.5576A>G	XP_016865457.1:p.His1859Arg
XM_017009969.2:c.5576A>G	XP_016865458.1:p.His1859Arg
XM_017009970.2:c.5576A>G	XP_016865459.1:p.His1859Arg
XM_017009971.2:c.5576A>G	XP_016865460.1:p.His1859Arg
XM_017009973.1:c.-1224A>G	XP_016865462.1:n.-1224A>G
XM_017009974.2:c.5576A>G	XP_016865463.1:p.His1859Arg
NR_003149.2:n.5675A>G