Canonical Allele Identifier: CA360408935

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 954307
• ClinVar RCV Id: RCV001226746
• dbSNP Id: rs1228940279
• gnomAD v3: 5-90745632-C-T
• gnomAD v4: 5-90745632-C-T
• MyVariant Identifiers: chr5:g.90041449C>T (hg19) ; chr5:g.90745632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745632C>T , CM000667.2:g.90745632C>T	GRCh38
NC_000005.9:g.90041449C>T , CM000667.1:g.90041449C>T	GRCh37
NC_000005.8:g.90077205C>T	NCBI36
NG_007083.1:g.191833C>T
NG_007083.2:g.221289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10811C>T MANE Select	ENSP00000384582.2:p.Thr3604Ile
ENST00000639431.1:c.265+69423C>T	ENSP00000491057.1:n.265+69423C>T
ENST00000640374.1:n.3955C>T
ENST00000640464.1:n.1230C>T
ENST00000405460.6:c.10811C>T	ENSP00000384582.2:p.Thr3604Ile
ENST00000509621.1:c.3508C>T
NM_032119.3:c.10811C>T	NP_115495.3:p.Thr3604Ile
NR_003149.1:n.10824C>T
XM_011543675.1:c.10808C>T	XP_011541977.1:p.Thr3603Ile
XM_011543676.1:c.10730C>T	XP_011541978.1:p.Thr3577Ile
XM_011543677.1:c.8114C>T	XP_011541979.1:p.Thr2705Ile
XM_011543678.1:c.10811C>T	XP_011541980.1:p.Thr3604Ile
XM_011543679.1:c.*33C>T	XP_011541981.1:n.*33C>T
NM_032119.4:c.10811C>T MANE Select	NP_115495.3:p.Thr3604Ile
XM_017009963.2:c.10832C>T	XP_016865452.1:p.Thr3611Ile
XM_017009964.2:c.10829C>T	XP_016865453.1:p.Thr3610Ile
XM_017009965.1:c.10829C>T	XP_016865454.1:p.Thr3610Ile
XM_017009966.2:c.10751C>T	XP_016865455.1:p.Thr3584Ile
XM_017009967.1:c.10736C>T	XP_016865456.1:p.Thr3579Ile
XM_017009968.2:c.10832C>T	XP_016865457.1:p.Thr3611Ile
XM_017009969.2:c.10832C>T	XP_016865458.1:p.Thr3611Ile
XM_017009970.2:c.10832C>T	XP_016865459.1:p.Thr3611Ile
XM_017009971.2:c.10832C>T	XP_016865460.1:p.Thr3611Ile
XM_017009972.1:c.3950C>T	XP_016865461.1:p.Thr1317Ile
XM_017009973.1:c.3929C>T	XP_016865462.1:p.Thr1310Ile
XM_017009974.2:c.*33C>T	XP_016865463.1:n.*33C>T
NR_003149.2:n.10827C>T