Canonical Allele Identifier: CA3340843

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 505145
• ClinVar RCV Id: RCV000613546
• dbSNP Id: rs761066341
• ExAC: 5:90041511 C / G
• gnomAD v2: 5-90041511-C-G
• gnomAD v3: 5-90745694-C-G
• gnomAD v4: 5-90745694-C-G
• MyVariant Identifiers: chr5:g.90041511C>G (hg19) ; chr5:g.90745694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745694C>G , CM000667.2:g.90745694C>G	GRCh38
NC_000005.9:g.90041511C>G , CM000667.1:g.90041511C>G	GRCh37
NC_000005.8:g.90077267C>G	NCBI36
NG_007083.1:g.191895C>G
NG_007083.2:g.221351C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.10873C>G MANE Select	ENSP00000384582.2:p.Leu3625Val
ENST00000425867.3:c.4C>G	ENSP00000392618.3:p.Leu2Val
ENST00000639431.1:c.265+69485C>G	ENSP00000491057.1:n.265+69485C>G
ENST00000640374.1:n.4017C>G
ENST00000640464.1:n.1292C>G
ENST00000405460.6:c.10873C>G	ENSP00000384582.2:p.Leu3625Val
ENST00000509621.1:c.3570C>G
NM_032119.3:c.10873C>G	NP_115495.3:p.Leu3625Val
NR_003149.1:n.10886C>G
XM_011543675.1:c.10870C>G	XP_011541977.1:p.Leu3624Val
XM_011543676.1:c.10792C>G	XP_011541978.1:p.Leu3598Val
XM_011543677.1:c.8176C>G	XP_011541979.1:p.Leu2726Val
XM_011543678.1:c.10873C>G	XP_011541980.1:p.Leu3625Val
NM_032119.4:c.10873C>G MANE Select	NP_115495.3:p.Leu3625Val
XM_017009963.2:c.10894C>G	XP_016865452.1:p.Leu3632Val
XM_017009964.2:c.10891C>G	XP_016865453.1:p.Leu3631Val
XM_017009965.1:c.10891C>G	XP_016865454.1:p.Leu3631Val
XM_017009966.2:c.10813C>G	XP_016865455.1:p.Leu3605Val
XM_017009967.1:c.10798C>G	XP_016865456.1:p.Leu3600Val
XM_017009968.2:c.10894C>G	XP_016865457.1:p.Leu3632Val
XM_017009969.2:c.10894C>G	XP_016865458.1:p.Leu3632Val
XM_017009970.2:c.10894C>G	XP_016865459.1:p.Leu3632Val
XM_017009971.2:c.10894C>G	XP_016865460.1:p.Leu3632Val
XM_017009972.1:c.4012C>G	XP_016865461.1:p.Leu1338Val
XM_017009973.1:c.3991C>G	XP_016865462.1:p.Leu1331Val
NR_003149.2:n.10889C>G