Canonical Allele Identifier: CA138204

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46367
• ClinVar RCV Id: RCV000039623 ; RCV000710458 ; RCV001154586
• dbSNP Id: rs148932387
• ExAC: 5:89989857 T / C
• gnomAD v2: 5-89989857-T-C
• gnomAD v3: 5-90694040-T-C
• gnomAD v4: 5-90694040-T-C
• MyVariant Identifiers: chr5:g.89989857T>C (hg19) ; chr5:g.90694040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90694040T>C , CM000667.2:g.90694040T>C	GRCh38
NC_000005.9:g.89989857T>C , CM000667.1:g.89989857T>C	GRCh37
NC_000005.8:g.90025613T>C	NCBI36
NG_007083.1:g.140241T>C
NG_007083.2:g.169697T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7284T>C MANE Select	ENSP00000384582.2:p.Asn2428=
ENST00000639431.1:c.265+17831T>C	ENSP00000491057.1:n.265+17831T>C
ENST00000639473.1:n.2743T>C
ENST00000640012.1:c.1091T>C
ENST00000640374.1:n.428T>C
ENST00000640403.1:c.4575T>C	ENSP00000492531.1:p.Asn1525=
ENST00000640779.1:c.2013T>C
ENST00000405460.6:c.7284T>C	ENSP00000384582.2:p.Asn2428=
NM_032119.3:c.7284T>C	NP_115495.3:p.Asn2428=
NR_003149.1:n.7297T>C
XM_011543675.1:c.7281T>C	XP_011541977.1:p.Asn2427=
XM_011543676.1:c.7203T>C	XP_011541978.1:p.Asn2401=
XM_011543677.1:c.4587T>C	XP_011541979.1:p.Asn1529=
XM_011543678.1:c.7284T>C	XP_011541980.1:p.Asn2428=
XM_011543679.1:c.7284T>C	XP_011541981.1:p.Asn2428=
NM_032119.4:c.7284T>C MANE Select	NP_115495.3:p.Asn2428=
XM_017009963.2:c.7284T>C	XP_016865452.1:p.Asn2428=
XM_017009964.2:c.7281T>C	XP_016865453.1:p.Asn2427=
XM_017009965.1:c.7281T>C	XP_016865454.1:p.Asn2427=
XM_017009966.2:c.7203T>C	XP_016865455.1:p.Asn2401=
XM_017009967.1:c.7188T>C	XP_016865456.1:p.Asn2396=
XM_017009968.2:c.7284T>C	XP_016865457.1:p.Asn2428=
XM_017009969.2:c.7284T>C	XP_016865458.1:p.Asn2428=
XM_017009970.2:c.7284T>C	XP_016865459.1:p.Asn2428=
XM_017009971.2:c.7284T>C	XP_016865460.1:p.Asn2428=
XM_017009972.1:c.402T>C	XP_016865461.1:p.Asn134=
XM_017009973.1:c.402T>C	XP_016865462.1:p.Asn134=
XM_017009974.2:c.7284T>C	XP_016865463.1:p.Asn2428=
NR_003149.2:n.7300T>C