Canonical Allele Identifier: CA3338554
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2997236
ClinVar RCV Id: RCV003851355
dbSNP Id: rs200939591
gnomAD v2: 5-89923074-A-G
gnomAD v3: 5-90627257-A-G
gnomAD v4: 5-90627257-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90627257A>G , CM000667.2:g.90627257A>G GRCh38
NC_000005.9:g.89923074A>G , CM000667.1:g.89923074A>G GRCh37
NC_000005.8:g.89958830A>G NCBI36
NG_007083.1:g.73458A>G
NG_007083.2:g.102914A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.719A>G MANE Select ENSP00000384582.2:p.Glu240Gly
ENST00000640083.1:n.424A>G
ENST00000640109.1:n.815A>G
ENST00000640281.1:n.778A>G
ENST00000405460.6:c.719A>G ENSP00000384582.2:p.Glu240Gly
NM_032119.3:c.719A>G NP_115495.3:p.Glu240Gly
NR_003149.1:n.815A>G
XM_011543675.1:c.719A>G XP_011541977.1:p.Glu240Gly
XM_011543676.1:c.719A>G XP_011541978.1:p.Glu240Gly
XM_011543678.1:c.719A>G XP_011541980.1:p.Glu240Gly
XM_011543679.1:c.719A>G XP_011541981.1:p.Glu240Gly
NM_032119.4:c.719A>G MANE Select NP_115495.3:p.Glu240Gly
XM_017009963.2:c.719A>G XP_016865452.1:p.Glu240Gly
XM_017009964.2:c.719A>G XP_016865453.1:p.Glu240Gly
XM_017009965.1:c.716A>G XP_016865454.1:p.Glu239Gly
XM_017009966.2:c.719A>G XP_016865455.1:p.Glu240Gly
XM_017009967.1:c.623A>G XP_016865456.1:p.Glu208Gly
XM_017009968.2:c.719A>G XP_016865457.1:p.Glu240Gly
XM_017009969.2:c.719A>G XP_016865458.1:p.Glu240Gly
XM_017009970.2:c.719A>G XP_016865459.1:p.Glu240Gly
XM_017009971.2:c.719A>G XP_016865460.1:p.Glu240Gly
XM_017009974.2:c.719A>G XP_016865463.1:p.Glu240Gly
NR_003149.2:n.818A>G