Canonical Allele Identifier: CA186075
Gene: ARV1 HGNC NCBI
ClinVar RCV:
RCV000162175
RCV000235018
RCV001814076
ClinVar Variation:
183341
dbSNP:
730882241
gnomAD v2:
1:231131622 G / A
gnomAD v3:
1:230995876 G / A
gnomAD v4:
chr1-230995876-G-A
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.00001923 (AFR)
Exomes Max Group AF 0.00000132 (NFE)
MyVariant.info:
GRCh38 chr1:g.230995876G>A
GRCh37 chr1:g.231131622G>A
Revel Score:
ENST00000310256 (MANE Select) 0.826
ENST00000366658 0.826
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230995876G>A , CM000663.2:g.230995876G>A GRCh38
NC_000001.10:g.231131622G>A , CM000663.1:g.231131622G>A GRCh37
NC_000001.9:g.229198245G>A NCBI36
NG_052022.1:g.21828G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310256.7:c.565G>A MANE Select ENSP00000312458.2:p.Gly189Arg
ENST00000310256.6:c.565G>A ENSP00000312458.2:p.Gly189Arg
ENST00000366658.6:c.445G>A ENSP00000355618.2:p.Gly149Arg
ENST00000435927.5:c.624G>A
ENST00000450711.5:c.555G>A
ENST00000459891.1:c.117G>A
ENST00000480519.5:c.493G>A ENSP00000436763.1:p.Gly165Arg
ENST00000497753.1:n.930G>A
NM_022786.1:c.565G>A NP_073623.1:p.Gly189Arg
XR_949154.1:n.596G>A
NM_001346992.1:c.664G>A NP_001333921.1:p.Gly222Arg
NM_022786.2:c.565G>A NP_073623.1:p.Gly189Arg
NR_144538.1:n.622G>A
XM_024449202.1:c.688G>A XP_024304970.1:p.Gly230Arg
XR_002957381.1:n.712G>A
NM_022786.3:c.565G>A MANE Select NP_073623.1:p.Gly189Arg
NM_001346992.2:c.664G>A NP_001333921.1:p.Gly222Arg
NR_144538.2:n.577G>A
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