Canonical Allele Identifier: CA3341700

Gene: ADGRV1

Linked Data

• dbSNP Id: rs528934737
• ExAC: 5:90086918 G / C
• gnomAD v2: 5-90086918-G-C
• gnomAD v3: 5-90791101-G-C
• gnomAD v4: 5-90791101-G-C
• MyVariant Identifiers: chr5:g.90086918G>C (hg19) ; chr5:g.90791101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90791101G>C , CM000667.2:g.90791101G>C	GRCh38
NC_000005.9:g.90086918G>C , CM000667.1:g.90086918G>C	GRCh37
NC_000005.8:g.90122674G>C	NCBI36
NG_007083.1:g.237302G>C
NG_007083.2:g.266758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.14272G>C MANE Select	ENSP00000384582.2:p.Asp4758His
ENST00000425867.3:c.3226G>C	ENSP00000392618.3:p.Asp1076His
ENST00000638510.1:n.1539G>C
ENST00000638585.1:n.38G>C
ENST00000638975.1:c.901G>C	ENSP00000492630.1:p.Asp301His
ENST00000639431.1:c.265+114892G>C	ENSP00000491057.1:n.265+114892G>C
ENST00000640407.1:c.682G>C	ENSP00000491425.1:p.Asp228His
ENST00000405460.6:c.14272G>C	ENSP00000384582.2:p.Asp4758His
ENST00000425867.2:c.1255G>C	ENSP00000392618.2:p.Asp419His
NM_032119.3:c.14272G>C	NP_115495.3:p.Asp4758His
NR_003149.1:n.14285G>C
XM_011543675.1:c.14269G>C	XP_011541977.1:p.Asp4757His
XM_011543676.1:c.14191G>C	XP_011541978.1:p.Asp4731His
XM_011543677.1:c.11575G>C	XP_011541979.1:p.Asp3859His
XM_011543678.1:c.14272G>C	XP_011541980.1:p.Asp4758His
NM_032119.4:c.14272G>C MANE Select	NP_115495.3:p.Asp4758His
XM_017009963.2:c.14293G>C	XP_016865452.1:p.Asp4765His
XM_017009964.2:c.14290G>C	XP_016865453.1:p.Asp4764His
XM_017009965.1:c.14290G>C	XP_016865454.1:p.Asp4764His
XM_017009966.2:c.14212G>C	XP_016865455.1:p.Asp4738His
XM_017009967.1:c.14197G>C	XP_016865456.1:p.Asp4733His
XM_017009968.2:c.14293G>C	XP_016865457.1:p.Asp4765His
XM_017009969.2:c.14293G>C	XP_016865458.1:p.Asp4765His
XM_017009970.2:c.14293G>C	XP_016865459.1:p.Asp4765His
XM_017009971.2:c.14293G>C	XP_016865460.1:p.Asp4765His
XM_017009972.1:c.7411G>C	XP_016865461.1:p.Asp2471His
XM_017009973.1:c.7390G>C	XP_016865462.1:p.Asp2464His
NR_003149.2:n.14288G>C