Canonical Allele Identifier: CA445406566

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2784900
• ClinVar RCV Id: RCV003662516
• dbSNP Id: rs1215292208
• gnomAD v2: 5-90059190-C-T
• gnomAD v3: 5-90763373-C-T
• gnomAD v4: 5-90763373-C-T
• COSMIC: COSM4461718
• MyVariant Identifiers: chr5:g.90059190C>T (hg19) ; chr5:g.90763373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763373C>T , CM000667.2:g.90763373C>T	GRCh38
NC_000005.9:g.90059190C>T , CM000667.1:g.90059190C>T	GRCh37
NC_000005.8:g.90094946C>T	NCBI36
NG_007083.1:g.209574C>T
NG_007083.2:g.239030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12189C>T MANE Select	ENSP00000384582.2:p.Ser4063=
ENST00000425867.3:c.1143C>T	ENSP00000392618.3:p.Ser381=
ENST00000639431.1:c.265+87164C>T	ENSP00000491057.1:n.265+87164C>T
ENST00000640464.1:n.2608C>T
ENST00000640729.1:n.766C>T
ENST00000405460.6:c.12189C>T	ENSP00000384582.2:p.Ser4063=
NM_032119.3:c.12189C>T	NP_115495.3:p.Ser4063=
NR_003149.1:n.12202C>T
XM_011543675.1:c.12186C>T	XP_011541977.1:p.Ser4062=
XM_011543676.1:c.12108C>T	XP_011541978.1:p.Ser4036=
XM_011543677.1:c.9492C>T	XP_011541979.1:p.Ser3164=
XM_011543678.1:c.12189C>T	XP_011541980.1:p.Ser4063=
NM_032119.4:c.12189C>T MANE Select	NP_115495.3:p.Ser4063=
XM_017009963.2:c.12210C>T	XP_016865452.1:p.Ser4070=
XM_017009964.2:c.12207C>T	XP_016865453.1:p.Ser4069=
XM_017009965.1:c.12207C>T	XP_016865454.1:p.Ser4069=
XM_017009966.2:c.12129C>T	XP_016865455.1:p.Ser4043=
XM_017009967.1:c.12114C>T	XP_016865456.1:p.Ser4038=
XM_017009968.2:c.12210C>T	XP_016865457.1:p.Ser4070=
XM_017009969.2:c.12210C>T	XP_016865458.1:p.Ser4070=
XM_017009970.2:c.12210C>T	XP_016865459.1:p.Ser4070=
XM_017009971.2:c.12210C>T	XP_016865460.1:p.Ser4070=
XM_017009972.1:c.5328C>T	XP_016865461.1:p.Ser1776=
XM_017009973.1:c.5307C>T	XP_016865462.1:p.Ser1769=
NR_003149.2:n.12205C>T