Canonical Allele Identifier: CA3339423
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 226648
dbSNP Id: rs111753827
gnomAD v2: 5-89968474-T-C
gnomAD v3: 5-90672657-T-C
gnomAD v4: 5-90672657-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90672657T>C , CM000667.2:g.90672657T>C GRCh38
NC_000005.9:g.89968474T>C , CM000667.1:g.89968474T>C GRCh37
NC_000005.8:g.90004230T>C NCBI36
NG_007083.1:g.118858T>C
NG_007083.2:g.148314T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.4864T>C MANE Select ENSP00000384582.2:p.Tyr1622His
ENST00000639473.1:n.323T>C
ENST00000639676.1:n.2462T>C
ENST00000640403.1:c.2155T>C ENSP00000492531.1:p.Tyr719His
ENST00000405460.6:c.4864T>C ENSP00000384582.2:p.Tyr1622His
ENST00000450321.2:n.104T>C
NM_032119.3:c.4864T>C NP_115495.3:p.Tyr1622His
NR_003149.1:n.4960T>C
XM_011543675.1:c.4864T>C XP_011541977.1:p.Tyr1622His
XM_011543676.1:c.4864T>C XP_011541978.1:p.Tyr1622His
XM_011543677.1:c.2167T>C XP_011541979.1:p.Tyr723His
XM_011543678.1:c.4864T>C XP_011541980.1:p.Tyr1622His
XM_011543679.1:c.4864T>C XP_011541981.1:p.Tyr1622His
NM_032119.4:c.4864T>C MANE Select NP_115495.3:p.Tyr1622His
XM_017009963.2:c.4864T>C XP_016865452.1:p.Tyr1622His
XM_017009964.2:c.4864T>C XP_016865453.1:p.Tyr1622His
XM_017009965.1:c.4861T>C XP_016865454.1:p.Tyr1621His
XM_017009966.2:c.4864T>C XP_016865455.1:p.Tyr1622His
XM_017009967.1:c.4768T>C XP_016865456.1:p.Tyr1590His
XM_017009968.2:c.4864T>C XP_016865457.1:p.Tyr1622His
XM_017009969.2:c.4864T>C XP_016865458.1:p.Tyr1622His
XM_017009970.2:c.4864T>C XP_016865459.1:p.Tyr1622His
XM_017009971.2:c.4864T>C XP_016865460.1:p.Tyr1622His
XM_017009974.2:c.4864T>C XP_016865463.1:p.Tyr1622His
NR_003149.2:n.4963T>C