Canonical Allele Identifier: CA10606456

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 289480
• ClinVar RCV Id: RCV000309426 ; RCV001731567
• dbSNP Id: rs756460900
• gnomAD v3: 5-90965491-A-G
• gnomAD v4: 5-90965491-A-G
• MyVariant Identifiers: chr5:g.90261308A>G (hg19) ; chr5:g.90965491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90965491A>G , CM000667.2:g.90965491A>G	GRCh38
NC_000005.9:g.90261308A>G , CM000667.1:g.90261308A>G	GRCh37
NC_000005.8:g.90297064A>G	NCBI36
NG_007083.1:g.411692A>G
NG_007083.2:g.441148A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.17933A>G MANE Select	ENSP00000384582.2:p.His5978Arg
ENST00000425867.3:c.6887A>G	ENSP00000392618.3:p.His2296Arg
ENST00000638510.1:n.5200A>G
ENST00000638990.1:c.1145A>G
ENST00000639431.1:c.266-19853A>G	ENSP00000491057.1:n.266-19853A>G
ENST00000639707.1:c.17A>G	ENSP00000492328.1:p.His6Arg
ENST00000639821.1:c.17A>G	ENSP00000492216.1:p.His6Arg
ENST00000640369.1:c.17A>G	ENSP00000491401.1:p.His6Arg
ENST00000640407.1:c.4382A>G	ENSP00000491425.1:n.4382A>G
ENST00000640815.1:c.17A>G	ENSP00000491767.1:p.His6Arg
ENST00000405460.6:c.17933A>G	ENSP00000384582.2:p.His5978Arg
ENST00000425867.2:c.4916A>G	ENSP00000392618.2:p.His1639Arg
NM_032119.3:c.17933A>G	NP_115495.3:p.His5978Arg
NR_003149.1:n.17946A>G
XM_011543675.1:c.17930A>G	XP_011541977.1:p.His5977Arg
XM_011543676.1:c.17852A>G	XP_011541978.1:p.His5951Arg
XM_011543677.1:c.15236A>G	XP_011541979.1:p.His5079Arg
NM_032119.4:c.17933A>G MANE Select	NP_115495.3:p.His5978Arg
XM_017009963.2:c.17954A>G	XP_016865452.1:p.His5985Arg
XM_017009964.2:c.17951A>G	XP_016865453.1:p.His5984Arg
XM_017009965.1:c.17951A>G	XP_016865454.1:p.His5984Arg
XM_017009966.2:c.17873A>G	XP_016865455.1:p.His5958Arg
XM_017009967.1:c.17858A>G	XP_016865456.1:p.His5953Arg
XM_017009968.2:c.17774A>G	XP_016865457.1:p.His5925Arg
XM_017009969.2:c.17954A>G	XP_016865458.1:p.His5985Arg
XM_017009972.1:c.11072A>G	XP_016865461.1:p.His3691Arg
XM_017009973.1:c.11051A>G	XP_016865462.1:p.His3684Arg
NR_003149.2:n.17949A>G