Canonical Allele Identifier: CA9739465

Gene: AVP

Linked Data

• ClinVar Variation Id: 724217
• ClinVar RCV Id: RCV000898097 ; RCV002495437 ; RCV003950506
• dbSNP Id: rs371697622
• ExAC: 20:3063795 G / T
• gnomAD v2: 20-3063795-G-T
• gnomAD v3: 20-3083149-G-T
• gnomAD v4: 20-3083149-G-T
• MyVariant Identifiers: chr20:g.3063795G>T (hg19) ; chr20:g.3083149G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3083149G>T , CM000682.2:g.3083149G>T	GRCh38
NC_000020.10:g.3063795G>T , CM000682.1:g.3063795G>T	GRCh37
NC_000020.9:g.3011795G>T	NCBI36
NG_008663.1:g.6576C>A , LRG_715:g.6576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.150C>A MANE Select	ENSP00000369647.3:p.Gly50=
NM_000490.4:c.150C>A , LRG_715t1:c.150C>A	NP_000481.2:p.Gly50=
XM_011529267.1:c.150C>A	XP_011527569.1:p.Gly50=
XM_011529267.2:c.150C>A	XP_011527569.1:p.Gly50=
NM_000490.5:c.150C>A MANE Select	NP_000481.2:p.Gly50=