Canonical Allele Identifier: CA3340984

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2421025
• ClinVar RCV Id: RCV003112685
• dbSNP Id: rs745539192
• ExAC: 5:90050944 C / T
• gnomAD v2: 5-90050944-C-T
• gnomAD v3: 5-90755127-C-T
• gnomAD v4: 5-90755127-C-T
• MyVariant Identifiers: chr5:g.90050944C>T (hg19) ; chr5:g.90755127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755127C>T , CM000667.2:g.90755127C>T	GRCh38
NC_000005.9:g.90050944C>T , CM000667.1:g.90050944C>T	GRCh37
NC_000005.8:g.90086700C>T	NCBI36
NG_007083.1:g.201328C>T
NG_007083.2:g.230784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11522C>T MANE Select	ENSP00000384582.2:p.Thr3841Ile
ENST00000425867.3:c.653C>T	ENSP00000392618.3:p.Thr218Ile
ENST00000639431.1:c.265+78918C>T	ENSP00000491057.1:n.265+78918C>T
ENST00000640374.1:n.4666C>T
ENST00000640464.1:n.1941C>T
ENST00000405460.6:c.11522C>T	ENSP00000384582.2:p.Thr3841Ile
ENST00000509621.1:c.4219C>T
NM_032119.3:c.11522C>T	NP_115495.3:p.Thr3841Ile
NR_003149.1:n.11535C>T
XM_011543675.1:c.11519C>T	XP_011541977.1:p.Thr3840Ile
XM_011543676.1:c.11441C>T	XP_011541978.1:p.Thr3814Ile
XM_011543677.1:c.8825C>T	XP_011541979.1:p.Thr2942Ile
XM_011543678.1:c.11522C>T	XP_011541980.1:p.Thr3841Ile
NM_032119.4:c.11522C>T MANE Select	NP_115495.3:p.Thr3841Ile
XM_017009963.2:c.11543C>T	XP_016865452.1:p.Thr3848Ile
XM_017009964.2:c.11540C>T	XP_016865453.1:p.Thr3847Ile
XM_017009965.1:c.11540C>T	XP_016865454.1:p.Thr3847Ile
XM_017009966.2:c.11462C>T	XP_016865455.1:p.Thr3821Ile
XM_017009967.1:c.11447C>T	XP_016865456.1:p.Thr3816Ile
XM_017009968.2:c.11543C>T	XP_016865457.1:p.Thr3848Ile
XM_017009969.2:c.11543C>T	XP_016865458.1:p.Thr3848Ile
XM_017009970.2:c.11543C>T	XP_016865459.1:p.Thr3848Ile
XM_017009971.2:c.11543C>T	XP_016865460.1:p.Thr3848Ile
XM_017009972.1:c.4661C>T	XP_016865461.1:p.Thr1554Ile
XM_017009973.1:c.4640C>T	XP_016865462.1:p.Thr1547Ile
NR_003149.2:n.11538C>T