Canonical Allele Identifier: CA3340791

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1930954
• ClinVar RCV Id: RCV002631322
• dbSNP Id: rs779323092
• ExAC: 5:90040894 T / C
• gnomAD v2: 5-90040894-T-C
• gnomAD v3: 5-90745077-T-C
• gnomAD v4: 5-90745077-T-C
• MyVariant Identifiers: chr5:g.90040894T>C (hg19) ; chr5:g.90745077T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745077T>C , CM000667.2:g.90745077T>C	GRCh38
NC_000005.9:g.90040894T>C , CM000667.1:g.90040894T>C	GRCh37
NC_000005.8:g.90076650T>C	NCBI36
NG_007083.1:g.191278T>C
NG_007083.2:g.220734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10581T>C MANE Select	ENSP00000384582.2:p.Ser3527=
ENST00000639431.1:c.265+68868T>C	ENSP00000491057.1:n.265+68868T>C
ENST00000640374.1:n.3725T>C
ENST00000640464.1:n.1000T>C
ENST00000405460.6:c.10581T>C	ENSP00000384582.2:p.Ser3527=
ENST00000509621.1:c.3278T>C
NM_032119.3:c.10581T>C	NP_115495.3:p.Ser3527=
NR_003149.1:n.10594T>C
XM_011543675.1:c.10578T>C	XP_011541977.1:p.Ser3526=
XM_011543676.1:c.10500T>C	XP_011541978.1:p.Ser3500=
XM_011543677.1:c.7884T>C	XP_011541979.1:p.Ser2628=
XM_011543678.1:c.10581T>C	XP_011541980.1:p.Ser3527=
XM_011543679.1:c.10581T>C	XP_011541981.1:p.Ser3527=
NM_032119.4:c.10581T>C MANE Select	NP_115495.3:p.Ser3527=
XM_017009963.2:c.10602T>C	XP_016865452.1:p.Ser3534=
XM_017009964.2:c.10599T>C	XP_016865453.1:p.Ser3533=
XM_017009965.1:c.10599T>C	XP_016865454.1:p.Ser3533=
XM_017009966.2:c.10521T>C	XP_016865455.1:p.Ser3507=
XM_017009967.1:c.10506T>C	XP_016865456.1:p.Ser3502=
XM_017009968.2:c.10602T>C	XP_016865457.1:p.Ser3534=
XM_017009969.2:c.10602T>C	XP_016865458.1:p.Ser3534=
XM_017009970.2:c.10602T>C	XP_016865459.1:p.Ser3534=
XM_017009971.2:c.10602T>C	XP_016865460.1:p.Ser3534=
XM_017009972.1:c.3720T>C	XP_016865461.1:p.Ser1240=
XM_017009973.1:c.3699T>C	XP_016865462.1:p.Ser1233=
XM_017009974.2:c.10602T>C	XP_016865463.1:p.Ser3534=
NR_003149.2:n.10597T>C