Canonical Allele Identifier: CA172278
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 158654
dbSNP Id: rs10068473
gnomAD v2: 5-89990545-C-A
gnomAD v3: 5-90694728-C-A
gnomAD v4: 5-90694728-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90694728C>A , CM000667.2:g.90694728C>A GRCh38
NC_000005.9:g.89990545C>A , CM000667.1:g.89990545C>A GRCh37
NC_000005.8:g.90026301C>A NCBI36
NG_007083.1:g.140929C>A
NG_007083.2:g.170385C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.7945+27C>A MANE Select ENSP00000384582.2:n.7945+27C>A
ENST00000639431.1:c.265+18519C>A ENSP00000491057.1:n.265+18519C>A
ENST00000639473.1:n.3404+27C>A
ENST00000640012.1:c.1752+27C>A
ENST00000640374.1:n.1089+27C>A
ENST00000640403.1:c.5236+27C>A ENSP00000492531.1:n.5236+27C>A
ENST00000640779.1:c.2674+27C>A
ENST00000405460.6:c.7945+27C>A ENSP00000384582.2:n.7945+27C>A
ENST00000509621.1:c.642+27C>A
NM_032119.3:c.7945+27C>A NP_115495.3:n.7945+27C>A
NR_003149.1:n.7958+27C>A
XM_011543675.1:c.7942+27C>A XP_011541977.1:n.7942+27C>A
XM_011543676.1:c.7864+27C>A XP_011541978.1:n.7864+27C>A
XM_011543677.1:c.5248+27C>A XP_011541979.1:n.5248+27C>A
XM_011543678.1:c.7945+27C>A XP_011541980.1:n.7945+27C>A
XM_011543679.1:c.7945+27C>A XP_011541981.1:n.7945+27C>A
NM_032119.4:c.7945+27C>A MANE Select NP_115495.3:n.7945+27C>A
XM_017009963.2:c.7945+27C>A XP_016865452.1:n.7945+27C>A
XM_017009964.2:c.7942+27C>A XP_016865453.1:n.7942+27C>A
XM_017009965.1:c.7942+27C>A XP_016865454.1:n.7942+27C>A
XM_017009966.2:c.7864+27C>A XP_016865455.1:n.7864+27C>A
XM_017009967.1:c.7849+27C>A XP_016865456.1:n.7849+27C>A
XM_017009968.2:c.7945+27C>A XP_016865457.1:n.7945+27C>A
XM_017009969.2:c.7945+27C>A XP_016865458.1:n.7945+27C>A
XM_017009970.2:c.7945+27C>A XP_016865459.1:n.7945+27C>A
XM_017009971.2:c.7945+27C>A XP_016865460.1:n.7945+27C>A
XM_017009972.1:c.1063+27C>A XP_016865461.1:n.1063+27C>A
XM_017009973.1:c.1063+27C>A XP_016865462.1:n.1063+27C>A
XM_017009974.2:c.7945+27C>A XP_016865463.1:n.7945+27C>A
NR_003149.2:n.7961+27C>A