Canonical Allele Identifier: CA137998

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46252
• ClinVar RCV Id: RCV000039508 ; RCV000086992 ; RCV001157311
• dbSNP Id: rs17624033
• ExAC: 5:90041510 A / G
• gnomAD v2: 5-90041510-A-G
• gnomAD v3: 5-90745693-A-G
• gnomAD v4: 5-90745693-A-G
• MyVariant Identifiers: chr5:g.90041510A>G (hg19) ; chr5:g.90745693A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745693A>G , CM000667.2:g.90745693A>G	GRCh38
NC_000005.9:g.90041510A>G , CM000667.1:g.90041510A>G	GRCh37
NC_000005.8:g.90077266A>G	NCBI36
NG_007083.1:g.191894A>G
NG_007083.2:g.221350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10872A>G MANE Select	ENSP00000384582.2:p.Gln3624=
ENST00000425867.3:c.3A>G	ENSP00000392618.3:p.Gln1=
ENST00000639431.1:c.265+69484A>G	ENSP00000491057.1:n.265+69484A>G
ENST00000640374.1:n.4016A>G
ENST00000640464.1:n.1291A>G
ENST00000405460.6:c.10872A>G	ENSP00000384582.2:p.Gln3624=
ENST00000509621.1:c.3569A>G
NM_032119.3:c.10872A>G	NP_115495.3:p.Gln3624=
NR_003149.1:n.10885A>G
XM_011543675.1:c.10869A>G	XP_011541977.1:p.Gln3623=
XM_011543676.1:c.10791A>G	XP_011541978.1:p.Gln3597=
XM_011543677.1:c.8175A>G	XP_011541979.1:p.Gln2725=
XM_011543678.1:c.10872A>G	XP_011541980.1:p.Gln3624=
NM_032119.4:c.10872A>G MANE Select	NP_115495.3:p.Gln3624=
XM_017009963.2:c.10893A>G	XP_016865452.1:p.Gln3631=
XM_017009964.2:c.10890A>G	XP_016865453.1:p.Gln3630=
XM_017009965.1:c.10890A>G	XP_016865454.1:p.Gln3630=
XM_017009966.2:c.10812A>G	XP_016865455.1:p.Gln3604=
XM_017009967.1:c.10797A>G	XP_016865456.1:p.Gln3599=
XM_017009968.2:c.10893A>G	XP_016865457.1:p.Gln3631=
XM_017009969.2:c.10893A>G	XP_016865458.1:p.Gln3631=
XM_017009970.2:c.10893A>G	XP_016865459.1:p.Gln3631=
XM_017009971.2:c.10893A>G	XP_016865460.1:p.Gln3631=
XM_017009972.1:c.4011A>G	XP_016865461.1:p.Gln1337=
XM_017009973.1:c.3990A>G	XP_016865462.1:p.Gln1330=
NR_003149.2:n.10888A>G