Canonical Allele Identifier: CA3339083

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 282971
• ClinVar RCV Id: RCV000365755 ; RCV001156671 ; RCV004547675
• dbSNP Id: rs375286987
• ExAC: 5:89941916 T / C
• gnomAD v2: 5-89941916-T-C
• gnomAD v3: 5-90646099-T-C
• gnomAD v4: 5-90646099-T-C
• MyVariant Identifiers: chr5:g.89941916T>C (hg19) ; chr5:g.90646099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90646099T>C , CM000667.2:g.90646099T>C	GRCh38
NC_000005.9:g.89941916T>C , CM000667.1:g.89941916T>C	GRCh37
NC_000005.8:g.89977672T>C	NCBI36
NG_007083.1:g.92300T>C
NG_007083.2:g.121756T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.3022+8T>C MANE Select	ENSP00000384582.2:n.3022+8T>C
ENST00000504142.2:n.1788+8T>C
ENST00000639676.1:n.620+8T>C
ENST00000640403.1:c.325+8T>C	ENSP00000492531.1:n.325+8T>C
ENST00000405460.6:c.3022+8T>C	ENSP00000384582.2:n.3022+8T>C
ENST00000504142.1:c.1787+8T>C
NM_032119.3:c.3022+8T>C	NP_115495.3:n.3022+8T>C
NR_003149.1:n.3118+8T>C
XM_011543675.1:c.3022+8T>C	XP_011541977.1:n.3022+8T>C
XM_011543676.1:c.3022+8T>C	XP_011541978.1:n.3022+8T>C
XM_011543677.1:c.325+8T>C	XP_011541979.1:n.325+8T>C
XM_011543678.1:c.3022+8T>C	XP_011541980.1:n.3022+8T>C
XM_011543679.1:c.3022+8T>C	XP_011541981.1:n.3022+8T>C
NM_032119.4:c.3022+8T>C MANE Select	NP_115495.3:n.3022+8T>C
XM_017009963.2:c.3022+8T>C	XP_016865452.1:n.3022+8T>C
XM_017009964.2:c.3022+8T>C	XP_016865453.1:n.3022+8T>C
XM_017009965.1:c.3019+8T>C	XP_016865454.1:n.3019+8T>C
XM_017009966.2:c.3022+8T>C	XP_016865455.1:n.3022+8T>C
XM_017009967.1:c.2926+8T>C	XP_016865456.1:n.2926+8T>C
XM_017009968.2:c.3022+8T>C	XP_016865457.1:n.3022+8T>C
XM_017009969.2:c.3022+8T>C	XP_016865458.1:n.3022+8T>C
XM_017009970.2:c.3022+8T>C	XP_016865459.1:n.3022+8T>C
XM_017009971.2:c.3022+8T>C	XP_016865460.1:n.3022+8T>C
XM_017009974.2:c.3022+8T>C	XP_016865463.1:n.3022+8T>C
NR_003149.2:n.3121+8T>C