Canonical Allele Identifier: CA9739440

Gene: AVP

Linked Data

• ClinVar Variation Id: 725170
• ClinVar RCV Id: RCV000899193 ; RCV003950531
• dbSNP Id: rs535682482
• ExAC: 20:3063626 C / T
• gnomAD v2: 20-3063626-C-T
• gnomAD v3: 20-3082980-C-T
• gnomAD v4: 20-3082980-C-T
• MyVariant Identifiers: chr20:g.3063626C>T (hg19) ; chr20:g.3082980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082980C>T , CM000682.2:g.3082980C>T	GRCh38
NC_000020.10:g.3063626C>T , CM000682.1:g.3063626C>T	GRCh37
NC_000020.9:g.3011626C>T	NCBI36
NG_008663.1:g.6745G>A , LRG_715:g.6745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.319G>A MANE Select	ENSP00000369647.3:p.Asp107Asn
NM_000490.4:c.319G>A , LRG_715t1:c.319G>A	NP_000481.2:p.Asp107Asn
XM_011529267.1:c.319G>A	XP_011527569.1:p.Asp107Asn
XM_011529267.2:c.319G>A	XP_011527569.1:p.Asp107Asn
NM_000490.5:c.319G>A MANE Select	NP_000481.2:p.Asp107Asn