Canonical Allele Identifier: CA176218

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 163598
• ClinVar RCV Id: RCV000150773 ; RCV000766419 ; RCV001157314 ; RCV002516027 ; RCV004551308
• dbSNP Id: rs113498662
• ExAC: 5:90049470 T / C
• gnomAD v2: 5-90049470-T-C
• gnomAD v3: 5-90753653-T-C
• gnomAD v4: 5-90753653-T-C
• MyVariant Identifiers: chr5:g.90049470T>C (hg19) ; chr5:g.90753653T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90753653T>C , CM000667.2:g.90753653T>C	GRCh38
NC_000005.9:g.90049470T>C , CM000667.1:g.90049470T>C	GRCh37
NC_000005.8:g.90085226T>C	NCBI36
NG_007083.1:g.199854T>C
NG_007083.2:g.229310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11201T>C MANE Select	ENSP00000384582.2:p.Val3734Ala
ENST00000425867.3:c.332T>C	ENSP00000392618.3:p.Val111Ala
ENST00000639431.1:c.265+77444T>C	ENSP00000491057.1:n.265+77444T>C
ENST00000640374.1:n.4345T>C
ENST00000640464.1:n.1620T>C
ENST00000405460.6:c.11201T>C	ENSP00000384582.2:p.Val3734Ala
ENST00000509621.1:c.3898T>C
NM_032119.3:c.11201T>C	NP_115495.3:p.Val3734Ala
NR_003149.1:n.11214T>C
XM_011543675.1:c.11198T>C	XP_011541977.1:p.Val3733Ala
XM_011543676.1:c.11120T>C	XP_011541978.1:p.Val3707Ala
XM_011543677.1:c.8504T>C	XP_011541979.1:p.Val2835Ala
XM_011543678.1:c.11201T>C	XP_011541980.1:p.Val3734Ala
NM_032119.4:c.11201T>C MANE Select	NP_115495.3:p.Val3734Ala
XM_017009963.2:c.11222T>C	XP_016865452.1:p.Val3741Ala
XM_017009964.2:c.11219T>C	XP_016865453.1:p.Val3740Ala
XM_017009965.1:c.11219T>C	XP_016865454.1:p.Val3740Ala
XM_017009966.2:c.11141T>C	XP_016865455.1:p.Val3714Ala
XM_017009967.1:c.11126T>C	XP_016865456.1:p.Val3709Ala
XM_017009968.2:c.11222T>C	XP_016865457.1:p.Val3741Ala
XM_017009969.2:c.11222T>C	XP_016865458.1:p.Val3741Ala
XM_017009970.2:c.11222T>C	XP_016865459.1:p.Val3741Ala
XM_017009971.2:c.11222T>C	XP_016865460.1:p.Val3741Ala
XM_017009972.1:c.4340T>C	XP_016865461.1:p.Val1447Ala
XM_017009973.1:c.4319T>C	XP_016865462.1:p.Val1440Ala
NR_003149.2:n.11217T>C