Canonical Allele Identifier: CA3340785

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 516104
• ClinVar RCV Id: RCV000728588 ; RCV001155646
• dbSNP Id: rs191228562
• ExAC: 5:90040856 C / T
• gnomAD v2: 5-90040856-C-T
• gnomAD v3: 5-90745039-C-T
• gnomAD v4: 5-90745039-C-T
• MyVariant Identifiers: chr5:g.90040856C>T (hg19) ; chr5:g.90745039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745039C>T , CM000667.2:g.90745039C>T	GRCh38
NC_000005.9:g.90040856C>T , CM000667.1:g.90040856C>T	GRCh37
NC_000005.8:g.90076612C>T	NCBI36
NG_007083.1:g.191240C>T
NG_007083.2:g.220696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10550-7C>T MANE Select	ENSP00000384582.2:n.10550-7C>T
ENST00000639431.1:c.265+68830C>T	ENSP00000491057.1:n.265+68830C>T
ENST00000640374.1:n.3694-7C>T
ENST00000640464.1:n.969-7C>T
ENST00000405460.6:c.10550-7C>T	ENSP00000384582.2:n.10550-7C>T
ENST00000509621.1:c.3247-7C>T
NM_032119.3:c.10550-7C>T	NP_115495.3:n.10550-7C>T
NR_003149.1:n.10563-7C>T
XM_011543675.1:c.10547-7C>T	XP_011541977.1:n.10547-7C>T
XM_011543676.1:c.10469-7C>T	XP_011541978.1:n.10469-7C>T
XM_011543677.1:c.7853-7C>T	XP_011541979.1:n.7853-7C>T
XM_011543678.1:c.10550-7C>T	XP_011541980.1:n.10550-7C>T
XM_011543679.1:c.10550-7C>T	XP_011541981.1:n.10550-7C>T
NM_032119.4:c.10550-7C>T MANE Select	NP_115495.3:n.10550-7C>T
XM_017009963.2:c.10571-7C>T	XP_016865452.1:n.10571-7C>T
XM_017009964.2:c.10568-7C>T	XP_016865453.1:n.10568-7C>T
XM_017009965.1:c.10568-7C>T	XP_016865454.1:n.10568-7C>T
XM_017009966.2:c.10490-7C>T	XP_016865455.1:n.10490-7C>T
XM_017009967.1:c.10475-7C>T	XP_016865456.1:n.10475-7C>T
XM_017009968.2:c.10571-7C>T	XP_016865457.1:n.10571-7C>T
XM_017009969.2:c.10571-7C>T	XP_016865458.1:n.10571-7C>T
XM_017009970.2:c.10571-7C>T	XP_016865459.1:n.10571-7C>T
XM_017009971.2:c.10571-7C>T	XP_016865460.1:n.10571-7C>T
XM_017009972.1:c.3689-7C>T	XP_016865461.1:n.3689-7C>T
XM_017009973.1:c.3668-7C>T	XP_016865462.1:n.3668-7C>T
XM_017009974.2:c.10571-7C>T	XP_016865463.1:n.10571-7C>T
NR_003149.2:n.10566-7C>T