Canonical Allele Identifier: CA445406260

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2825736
• ClinVar RCV Id: RCV003681127
• dbSNP Id: rs1194577965
• gnomAD v2: 5-89999501-T-C
• gnomAD v4: 5-90703684-T-C
• MyVariant Identifiers: chr5:g.89999501T>C (hg19) ; chr5:g.90703684T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90703684T>C , CM000667.2:g.90703684T>C	GRCh38
NC_000005.9:g.89999501T>C , CM000667.1:g.89999501T>C	GRCh37
NC_000005.8:g.90035257T>C	NCBI36
NG_007083.1:g.149885T>C
NG_007083.2:g.179341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.8175T>C MANE Select	ENSP00000384582.2:p.His2725=
ENST00000639431.1:c.265+27475T>C	ENSP00000491057.1:n.265+27475T>C
ENST00000639473.1:n.3634T>C
ENST00000640012.1:c.1982T>C
ENST00000640374.1:n.1319T>C
ENST00000640403.1:c.5466T>C	ENSP00000492531.1:p.His1822=
ENST00000640779.1:c.2904T>C
ENST00000405460.6:c.8175T>C	ENSP00000384582.2:p.His2725=
ENST00000509621.1:c.872T>C
NM_032119.3:c.8175T>C	NP_115495.3:p.His2725=
NR_003149.1:n.8188T>C
XM_011543675.1:c.8172T>C	XP_011541977.1:p.His2724=
XM_011543676.1:c.8094T>C	XP_011541978.1:p.His2698=
XM_011543677.1:c.5478T>C	XP_011541979.1:p.His1826=
XM_011543678.1:c.8175T>C	XP_011541980.1:p.His2725=
XM_011543679.1:c.8175T>C	XP_011541981.1:p.His2725=
NM_032119.4:c.8175T>C MANE Select	NP_115495.3:p.His2725=
XM_017009963.2:c.8175T>C	XP_016865452.1:p.His2725=
XM_017009964.2:c.8172T>C	XP_016865453.1:p.His2724=
XM_017009965.1:c.8172T>C	XP_016865454.1:p.His2724=
XM_017009966.2:c.8094T>C	XP_016865455.1:p.His2698=
XM_017009967.1:c.8079T>C	XP_016865456.1:p.His2693=
XM_017009968.2:c.8175T>C	XP_016865457.1:p.His2725=
XM_017009969.2:c.8175T>C	XP_016865458.1:p.His2725=
XM_017009970.2:c.8175T>C	XP_016865459.1:p.His2725=
XM_017009971.2:c.8175T>C	XP_016865460.1:p.His2725=
XM_017009972.1:c.1293T>C	XP_016865461.1:p.His431=
XM_017009973.1:c.1293T>C	XP_016865462.1:p.His431=
XM_017009974.2:c.8175T>C	XP_016865463.1:p.His2725=
NR_003149.2:n.8191T>C