Canonical Allele Identifier: CA138230
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 46382
dbSNP Id: rs139278305
gnomAD v2: 5-89990524-C-T
gnomAD v3: 5-90694707-C-T
gnomAD v4: 5-90694707-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90694707C>T , CM000667.2:g.90694707C>T GRCh38
NC_000005.9:g.89990524C>T , CM000667.1:g.89990524C>T GRCh37
NC_000005.8:g.90026280C>T NCBI36
NG_007083.1:g.140908C>T
NG_007083.2:g.170364C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.7945+6C>T MANE Select ENSP00000384582.2:n.7945+6C>T
ENST00000639431.1:c.265+18498C>T ENSP00000491057.1:n.265+18498C>T
ENST00000639473.1:n.3404+6C>T
ENST00000640012.1:c.1752+6C>T
ENST00000640374.1:n.1089+6C>T
ENST00000640403.1:c.5236+6C>T ENSP00000492531.1:n.5236+6C>T
ENST00000640779.1:c.2674+6C>T
ENST00000405460.6:c.7945+6C>T ENSP00000384582.2:n.7945+6C>T
ENST00000509621.1:c.642+6C>T
NM_032119.3:c.7945+6C>T NP_115495.3:n.7945+6C>T
NR_003149.1:n.7958+6C>T
XM_011543675.1:c.7942+6C>T XP_011541977.1:n.7942+6C>T
XM_011543676.1:c.7864+6C>T XP_011541978.1:n.7864+6C>T
XM_011543677.1:c.5248+6C>T XP_011541979.1:n.5248+6C>T
XM_011543678.1:c.7945+6C>T XP_011541980.1:n.7945+6C>T
XM_011543679.1:c.7945+6C>T XP_011541981.1:n.7945+6C>T
NM_032119.4:c.7945+6C>T MANE Select NP_115495.3:n.7945+6C>T
XM_017009963.2:c.7945+6C>T XP_016865452.1:n.7945+6C>T
XM_017009964.2:c.7942+6C>T XP_016865453.1:n.7942+6C>T
XM_017009965.1:c.7942+6C>T XP_016865454.1:n.7942+6C>T
XM_017009966.2:c.7864+6C>T XP_016865455.1:n.7864+6C>T
XM_017009967.1:c.7849+6C>T XP_016865456.1:n.7849+6C>T
XM_017009968.2:c.7945+6C>T XP_016865457.1:n.7945+6C>T
XM_017009969.2:c.7945+6C>T XP_016865458.1:n.7945+6C>T
XM_017009970.2:c.7945+6C>T XP_016865459.1:n.7945+6C>T
XM_017009971.2:c.7945+6C>T XP_016865460.1:n.7945+6C>T
XM_017009972.1:c.1063+6C>T XP_016865461.1:n.1063+6C>T
XM_017009973.1:c.1063+6C>T XP_016865462.1:n.1063+6C>T
XM_017009974.2:c.7945+6C>T XP_016865463.1:n.7945+6C>T
NR_003149.2:n.7961+6C>T