Canonical Allele Identifier: CA3341678
Community Standard Title: NM_032119.4(ADGRV1):c.14150A>G (p.His4717Arg)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90790979A>G , CM000667.2:g.90790979A>G GRCh38
NC_000005.9:g.90086796A>G , CM000667.1:g.90086796A>G GRCh37
NC_000005.8:g.90122552A>G NCBI36
NG_007083.1:g.237180A>G
NG_007083.2:g.266636A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14150A>G MANE Select NP_115495.3:p.His4717Arg
ENST00000405460.9:c.14150A>G MANE Select ENSP00000384582.2:p.His4717Arg
NM_032119.3:c.14150A>G NP_115495.3:p.His4717Arg
NR_003149.1:n.14163A>G
NR_003149.2:n.14166A>G
ENST00000405460.6:c.14150A>G ENSP00000384582.2:p.His4717Arg
ENST00000425867.2:c.1133A>G ENSP00000392618.2:p.His378Arg
ENST00000425867.3:c.3104A>G ENSP00000392618.3:p.His1035Arg
ENST00000638510.1:n.1417A>G
ENST00000638975.1:c.779A>G ENSP00000492630.1:p.His260Arg
ENST00000639431.1:c.265+114770A>G ENSP00000491057.1:n.265+114770A>G
ENST00000640407.1:c.560A>G ENSP00000491425.1:p.His187Arg
XM_011543675.1:c.14147A>G XP_011541977.1:p.His4716Arg
XM_011543676.1:c.14069A>G XP_011541978.1:p.His4690Arg
XM_011543677.1:c.11453A>G XP_011541979.1:p.His3818Arg
XM_011543678.1:c.14150A>G XP_011541980.1:p.His4717Arg
XM_017009963.2:c.14171A>G XP_016865452.1:p.His4724Arg
XM_017009964.2:c.14168A>G XP_016865453.1:p.His4723Arg
XM_017009965.1:c.14168A>G XP_016865454.1:p.His4723Arg
XM_017009966.2:c.14090A>G XP_016865455.1:p.His4697Arg
XM_017009967.1:c.14075A>G XP_016865456.1:p.His4692Arg
XM_017009968.2:c.14171A>G XP_016865457.1:p.His4724Arg
XM_017009969.2:c.14171A>G XP_016865458.1:p.His4724Arg
XM_017009970.2:c.14171A>G XP_016865459.1:p.His4724Arg
XM_017009971.2:c.14171A>G XP_016865460.1:p.His4724Arg
XM_017009972.1:c.7289A>G XP_016865461.1:p.His2430Arg
XM_017009973.1:c.7268A>G XP_016865462.1:p.His2423Arg