Canonical Allele Identifier: CA3341100
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 904913
ClinVar RCV Id: RCV001153108 RCV001364911
dbSNP Id: rs78833918
ExAC: 5:90055239 T / C
gnomAD v2: 5-90055239-T-C
gnomAD v3: 5-90759422-T-C
gnomAD v4: 5-90759422-T-C
MyVariant Identifiers: chr5:g.90055239T>C (hg19) chr5:g.90759422T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90759422T>C , CM000667.2:g.90759422T>C GRCh38
NC_000005.9:g.90055239T>C , CM000667.1:g.90055239T>C GRCh37
NC_000005.8:g.90090995T>C NCBI36
NG_007083.1:g.205623T>C
NG_007083.2:g.235079T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.11954T>C MANE Select ENSP00000384582.2:p.Ile3985Thr
ENST00000425867.3:c.908T>C ENSP00000392618.3:p.Ile303Thr
ENST00000639431.1:c.265+83213T>C ENSP00000491057.1:n.265+83213T>C
ENST00000639884.1:n.608T>C
ENST00000640374.1:n.4921T>C
ENST00000640464.1:n.2373T>C
ENST00000405460.6:c.11954T>C ENSP00000384582.2:p.Ile3985Thr
ENST00000509621.1:c.4651T>C
NM_032119.3:c.11954T>C NP_115495.3:p.Ile3985Thr
NR_003149.1:n.11967T>C
XM_011543675.1:c.11951T>C XP_011541977.1:p.Ile3984Thr
XM_011543676.1:c.11873T>C XP_011541978.1:p.Ile3958Thr
XM_011543677.1:c.9257T>C XP_011541979.1:p.Ile3086Thr
XM_011543678.1:c.11954T>C XP_011541980.1:p.Ile3985Thr
NM_032119.4:c.11954T>C MANE Select NP_115495.3:p.Ile3985Thr
XM_017009963.2:c.11975T>C XP_016865452.1:p.Ile3992Thr
XM_017009964.2:c.11972T>C XP_016865453.1:p.Ile3991Thr
XM_017009965.1:c.11972T>C XP_016865454.1:p.Ile3991Thr
XM_017009966.2:c.11894T>C XP_016865455.1:p.Ile3965Thr
XM_017009967.1:c.11879T>C XP_016865456.1:p.Ile3960Thr
XM_017009968.2:c.11975T>C XP_016865457.1:p.Ile3992Thr
XM_017009969.2:c.11975T>C XP_016865458.1:p.Ile3992Thr
XM_017009970.2:c.11975T>C XP_016865459.1:p.Ile3992Thr
XM_017009971.2:c.11975T>C XP_016865460.1:p.Ile3992Thr
XM_017009972.1:c.5093T>C XP_016865461.1:p.Ile1698Thr
XM_017009973.1:c.5072T>C XP_016865462.1:p.Ile1691Thr
NR_003149.2:n.11970T>C
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