Canonical Allele Identifier: CA1450432
Gene: ARV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224496
dbSNP Id: rs150619347

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230988440G>A , CM000663.2:g.230988440G>A GRCh38
NC_000001.10:g.231124186G>A , CM000663.1:g.231124186G>A GRCh37
NC_000001.9:g.229190809G>A NCBI36
NG_052022.1:g.14392G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310256.7:c.294+1G>A MANE Select ENSP00000312458.2:n.294+1G>A
ENST00000310256.6:c.294+1G>A ENSP00000312458.2:n.294+1G>A
ENST00000366658.6:c.175-1670G>A ENSP00000355618.2:n.175-1670G>A
ENST00000435927.5:c.254+1G>A
ENST00000450711.5:c.284+1G>A
ENST00000480519.5:c.222+1G>A ENSP00000436763.1:n.222+1G>A
ENST00000497753.1:n.659+1G>A
NM_022786.1:c.294+1G>A NP_073623.1:n.294+1G>A
XR_949154.1:n.325+1G>A
NM_001346992.1:c.294+1G>A NP_001333921.1:n.294+1G>A
NM_022786.2:c.294+1G>A NP_073623.1:n.294+1G>A
NR_144538.1:n.351+1G>A
XM_024449202.1:c.294+1G>A XP_024304970.1:n.294+1G>A
XR_002957381.1:n.318+1G>A
NM_022786.3:c.294+1G>A MANE Select NP_073623.1:n.294+1G>A
NM_001346992.2:c.294+1G>A NP_001333921.1:n.294+1G>A
NR_144538.2:n.306+1G>A