Canonical Allele Identifier: CA200598

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 193464
• ClinVar RCV Id: RCV000173536 ; RCV000710442 ; RCV004552957
• dbSNP Id: rs368604803
• ExAC: 5:89854743 T / C
• gnomAD v2: 5-89854743-T-C
• gnomAD v3: 5-90558926-T-C
• gnomAD v4: 5-90558926-T-C
• MyVariant Identifiers: chr5:g.89854743T>C (hg19) ; chr5:g.90558926T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90558926T>C , CM000667.2:g.90558926T>C	GRCh38
NC_000005.9:g.89854743T>C , CM000667.1:g.89854743T>C	GRCh37
NC_000005.8:g.89890499T>C	NCBI36
NG_007083.1:g.5127T>C
NG_007083.2:g.34583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.22+9T>C MANE Select	ENSP00000384582.2:n.22+9T>C
ENST00000638316.1:n.232+9T>C
ENST00000640109.1:n.118+9T>C
ENST00000640281.1:n.81+9T>C
ENST00000405460.6:c.22+9T>C	ENSP00000384582.2:n.22+9T>C
ENST00000508842.5:c.34+29411T>C	ENSP00000425936.1:n.34+29411T>C
NM_032119.3:c.22+9T>C	NP_115495.3:n.22+9T>C
NR_003149.1:n.118+9T>C
XM_011543675.1:c.22+9T>C	XP_011541977.1:n.22+9T>C
XM_011543676.1:c.22+9T>C	XP_011541978.1:n.22+9T>C
XM_011543678.1:c.22+9T>C	XP_011541980.1:n.22+9T>C
XM_011543679.1:c.22+9T>C	XP_011541981.1:n.22+9T>C
NM_032119.4:c.22+9T>C MANE Select	NP_115495.3:n.22+9T>C
XM_017009963.2:c.22+9T>C	XP_016865452.1:n.22+9T>C
XM_017009964.2:c.22+9T>C	XP_016865453.1:n.22+9T>C
XM_017009966.2:c.22+9T>C	XP_016865455.1:n.22+9T>C
XM_017009967.1:c.22+9T>C	XP_016865456.1:n.22+9T>C
XM_017009968.2:c.22+9T>C	XP_016865457.1:n.22+9T>C
XM_017009969.2:c.22+9T>C	XP_016865458.1:n.22+9T>C
XM_017009970.2:c.22+9T>C	XP_016865459.1:n.22+9T>C
XM_017009971.2:c.22+9T>C	XP_016865460.1:n.22+9T>C
XM_017009974.2:c.22+9T>C	XP_016865463.1:n.22+9T>C
NR_003149.2:n.121+9T>C