Canonical Allele Identifier: CA3338998
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2872100
ClinVar RCV Id: RCV003705868
dbSNP Id: rs760546249
gnomAD v2: 5-89939820-A-G
gnomAD v3: 5-90644003-A-G
gnomAD v4: 5-90644003-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90644003A>G , CM000667.2:g.90644003A>G GRCh38
NC_000005.9:g.89939820A>G , CM000667.1:g.89939820A>G GRCh37
NC_000005.8:g.89975576A>G NCBI36
NG_007083.1:g.90204A>G
NG_007083.2:g.119660A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.2734+20A>G MANE Select ENSP00000384582.2:n.2734+20A>G
ENST00000504142.2:n.1500+20A>G
ENST00000639676.1:n.332+20A>G
ENST00000640403.1:c.37+20A>G ENSP00000492531.1:n.37+20A>G
ENST00000405460.6:c.2734+20A>G ENSP00000384582.2:n.2734+20A>G
ENST00000504142.1:c.1499+20A>G
NM_032119.3:c.2734+20A>G NP_115495.3:n.2734+20A>G
NR_003149.1:n.2830+20A>G
XM_011543675.1:c.2734+20A>G XP_011541977.1:n.2734+20A>G
XM_011543676.1:c.2734+20A>G XP_011541978.1:n.2734+20A>G
XM_011543677.1:c.37+20A>G XP_011541979.1:n.37+20A>G
XM_011543678.1:c.2734+20A>G XP_011541980.1:n.2734+20A>G
XM_011543679.1:c.2734+20A>G XP_011541981.1:n.2734+20A>G
NM_032119.4:c.2734+20A>G MANE Select NP_115495.3:n.2734+20A>G
XM_017009963.2:c.2734+20A>G XP_016865452.1:n.2734+20A>G
XM_017009964.2:c.2734+20A>G XP_016865453.1:n.2734+20A>G
XM_017009965.1:c.2731+20A>G XP_016865454.1:n.2731+20A>G
XM_017009966.2:c.2734+20A>G XP_016865455.1:n.2734+20A>G
XM_017009967.1:c.2638+20A>G XP_016865456.1:n.2638+20A>G
XM_017009968.2:c.2734+20A>G XP_016865457.1:n.2734+20A>G
XM_017009969.2:c.2734+20A>G XP_016865458.1:n.2734+20A>G
XM_017009970.2:c.2734+20A>G XP_016865459.1:n.2734+20A>G
XM_017009971.2:c.2734+20A>G XP_016865460.1:n.2734+20A>G
XM_017009974.2:c.2734+20A>G XP_016865463.1:n.2734+20A>G
NR_003149.2:n.2833+20A>G