Canonical Allele Identifier: CA1450409

Gene: ARV1

Linked Data

• ClinVar Variation Id: 738503
• ClinVar RCV Id: RCV000914397
• dbSNP Id: rs763598898
• ExAC: 1:231124056 A / C
• gnomAD v2: 1-231124056-A-C
• gnomAD v3: 1-230988310-A-C
• gnomAD v4: 1-230988310-A-C
• MyVariant Identifiers: chr1:g.231124056A>C (hg19) ; chr1:g.230988310A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230988310A>C , CM000663.2:g.230988310A>C	GRCh38
NC_000001.10:g.231124056A>C , CM000663.1:g.231124056A>C	GRCh37
NC_000001.9:g.229190679A>C	NCBI36
NG_052022.1:g.14262A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310256.7:c.175-10A>C MANE Select	ENSP00000312458.2:n.175-10A>C
ENST00000310256.6:c.175-10A>C	ENSP00000312458.2:n.175-10A>C
ENST00000366658.6:c.175-1800A>C	ENSP00000355618.2:n.175-1800A>C
ENST00000435927.5:c.135-10A>C
ENST00000450711.5:c.165-10A>C
ENST00000480519.5:c.103-10A>C	ENSP00000436763.1:n.103-10A>C
ENST00000497753.1:n.540-10A>C
NM_022786.1:c.175-10A>C	NP_073623.1:n.175-10A>C
XR_949154.1:n.206-10A>C
NM_001346992.1:c.175-10A>C	NP_001333921.1:n.175-10A>C
NM_022786.2:c.175-10A>C	NP_073623.1:n.175-10A>C
NR_144538.1:n.232-10A>C
XM_024449202.1:c.175-10A>C	XP_024304970.1:n.175-10A>C
XR_002957381.1:n.199-10A>C
NM_022786.3:c.175-10A>C MANE Select	NP_073623.1:n.175-10A>C
NM_001346992.2:c.175-10A>C	NP_001333921.1:n.175-10A>C
NR_144538.2:n.187-10A>C