Canonical Allele Identifier: CA3339023

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1130037
• ClinVar RCV Id: RCV001463382
• dbSNP Id: rs756362208
• ExAC: 5:89940593 C / T
• gnomAD v2: 5-89940593-C-T
• gnomAD v3: 5-90644776-C-T
• gnomAD v4: 5-90644776-C-T
• MyVariant Identifiers: chr5:g.89940593C>T (hg19) ; chr5:g.90644776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90644776C>T , CM000667.2:g.90644776C>T	GRCh38
NC_000005.9:g.89940593C>T , CM000667.1:g.89940593C>T	GRCh37
NC_000005.8:g.89976349C>T	NCBI36
NG_007083.1:g.90977C>T
NG_007083.2:g.120433C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.2805C>T MANE Select	ENSP00000384582.2:p.Asp935=
ENST00000504142.2:n.1571C>T
ENST00000639676.1:n.403C>T
ENST00000640403.1:c.108C>T	ENSP00000492531.1:p.Asp36=
ENST00000405460.6:c.2805C>T	ENSP00000384582.2:p.Asp935=
ENST00000504142.1:c.1570C>T
NM_032119.3:c.2805C>T	NP_115495.3:p.Asp935=
NR_003149.1:n.2901C>T
XM_011543675.1:c.2805C>T	XP_011541977.1:p.Asp935=
XM_011543676.1:c.2805C>T	XP_011541978.1:p.Asp935=
XM_011543677.1:c.108C>T	XP_011541979.1:p.Asp36=
XM_011543678.1:c.2805C>T	XP_011541980.1:p.Asp935=
XM_011543679.1:c.2805C>T	XP_011541981.1:p.Asp935=
NM_032119.4:c.2805C>T MANE Select	NP_115495.3:p.Asp935=
XM_017009963.2:c.2805C>T	XP_016865452.1:p.Asp935=
XM_017009964.2:c.2805C>T	XP_016865453.1:p.Asp935=
XM_017009965.1:c.2802C>T	XP_016865454.1:p.Asp934=
XM_017009966.2:c.2805C>T	XP_016865455.1:p.Asp935=
XM_017009967.1:c.2709C>T	XP_016865456.1:p.Asp903=
XM_017009968.2:c.2805C>T	XP_016865457.1:p.Asp935=
XM_017009969.2:c.2805C>T	XP_016865458.1:p.Asp935=
XM_017009970.2:c.2805C>T	XP_016865459.1:p.Asp935=
XM_017009971.2:c.2805C>T	XP_016865460.1:p.Asp935=
XM_017009974.2:c.2805C>T	XP_016865463.1:p.Asp935=
NR_003149.2:n.2904C>T