Canonical Allele Identifier: CA138030
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 46270
dbSNP Id: rs41304892
gnomAD v2: 5-90086955-G-A
gnomAD v3: 5-90791138-G-A
gnomAD v4: 5-90791138-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90791138G>A , CM000667.2:g.90791138G>A GRCh38
NC_000005.9:g.90086955G>A , CM000667.1:g.90086955G>A GRCh37
NC_000005.8:g.90122711G>A NCBI36
NG_007083.1:g.237339G>A
NG_007083.2:g.266795G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.14309G>A MANE Select ENSP00000384582.2:p.Arg4770His
ENST00000425867.3:c.3263G>A ENSP00000392618.3:p.Arg1088His
ENST00000638510.1:n.1576G>A
ENST00000638585.1:n.75G>A
ENST00000638975.1:c.938G>A ENSP00000492630.1:p.Arg313His
ENST00000639431.1:c.265+114929G>A ENSP00000491057.1:n.265+114929G>A
ENST00000640407.1:c.719G>A ENSP00000491425.1:p.Arg240His
ENST00000405460.6:c.14309G>A ENSP00000384582.2:p.Arg4770His
ENST00000425867.2:c.1292G>A ENSP00000392618.2:p.Arg431His
NM_032119.3:c.14309G>A NP_115495.3:p.Arg4770His
NR_003149.1:n.14322G>A
XM_011543675.1:c.14306G>A XP_011541977.1:p.Arg4769His
XM_011543676.1:c.14228G>A XP_011541978.1:p.Arg4743His
XM_011543677.1:c.11612G>A XP_011541979.1:p.Arg3871His
XM_011543678.1:c.14309G>A XP_011541980.1:p.Arg4770His
NM_032119.4:c.14309G>A MANE Select NP_115495.3:p.Arg4770His
XM_017009963.2:c.14330G>A XP_016865452.1:p.Arg4777His
XM_017009964.2:c.14327G>A XP_016865453.1:p.Arg4776His
XM_017009965.1:c.14327G>A XP_016865454.1:p.Arg4776His
XM_017009966.2:c.14249G>A XP_016865455.1:p.Arg4750His
XM_017009967.1:c.14234G>A XP_016865456.1:p.Arg4745His
XM_017009968.2:c.14330G>A XP_016865457.1:p.Arg4777His
XM_017009969.2:c.14330G>A XP_016865458.1:p.Arg4777His
XM_017009970.2:c.14330G>A XP_016865459.1:p.Arg4777His
XM_017009971.2:c.14330G>A XP_016865460.1:p.Arg4777His
XM_017009972.1:c.7448G>A XP_016865461.1:p.Arg2483His
XM_017009973.1:c.7427G>A XP_016865462.1:p.Arg2476His
NR_003149.2:n.14325G>A