Canonical Allele Identifier: CA1078675535

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2971143
• ClinVar RCV Id: RCV003827325
• dbSNP Id: rs1763779597
• gnomAD v3: 5-90823415-T-C
• gnomAD v4: 5-90823415-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823415T>C , CM000667.2:g.90823415T>C	GRCh38
NC_000005.9:g.90119232T>C , CM000667.1:g.90119232T>C	GRCh37
NC_000005.8:g.90154988T>C	NCBI36
NG_007083.1:g.269616T>C
NG_007083.2:g.299072T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.16197-10T>C MANE Select	ENSP00000384582.2:n.16197-10T>C
ENST00000425867.3:c.5151-10T>C	ENSP00000392618.3:n.5151-10T>C
ENST00000638510.1:n.3464-10T>C
ENST00000639431.1:c.265+147206T>C	ENSP00000491057.1:n.265+147206T>C
ENST00000640061.1:n.128+1233T>C
ENST00000640407.1:c.2607-10T>C	ENSP00000491425.1:n.2607-10T>C
ENST00000405460.6:c.16197-10T>C	ENSP00000384582.2:n.16197-10T>C
ENST00000425867.2:c.3180-10T>C	ENSP00000392618.2:n.3180-10T>C
NM_032119.3:c.16197-10T>C	NP_115495.3:n.16197-10T>C
NR_003149.1:n.16210-10T>C
XM_011543675.1:c.16194-10T>C	XP_011541977.1:n.16194-10T>C
XM_011543676.1:c.16116-10T>C	XP_011541978.1:n.16116-10T>C
XM_011543677.1:c.13500-10T>C	XP_011541979.1:n.13500-10T>C
NM_032119.4:c.16197-10T>C MANE Select	NP_115495.3:n.16197-10T>C
XM_017009963.2:c.16218-10T>C	XP_016865452.1:n.16218-10T>C
XM_017009964.2:c.16215-10T>C	XP_016865453.1:n.16215-10T>C
XM_017009965.1:c.16215-10T>C	XP_016865454.1:n.16215-10T>C
XM_017009966.2:c.16137-10T>C	XP_016865455.1:n.16137-10T>C
XM_017009967.1:c.16122-10T>C	XP_016865456.1:n.16122-10T>C
XM_017009968.2:c.16038-10T>C	XP_016865457.1:n.16038-10T>C
XM_017009969.2:c.16218-10T>C	XP_016865458.1:n.16218-10T>C
XM_017009972.1:c.9336-10T>C	XP_016865461.1:n.9336-10T>C
XM_017009973.1:c.9315-10T>C	XP_016865462.1:n.9315-10T>C
NR_003149.2:n.16213-10T>C