Canonical Allele Identifier: CA9739485

Gene: AVP

Linked Data

• dbSNP Id: rs774251966
• ExAC: 20:3065200 C / T
• gnomAD v2: 20-3065200-C-T
• gnomAD v3: 20-3084554-C-T
• gnomAD v4: 20-3084554-C-T
• MyVariant Identifiers: chr20:g.3065200C>T (hg19) ; chr20:g.3084554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3084554C>T , CM000682.2:g.3084554C>T	GRCh38
NC_000020.10:g.3065200C>T , CM000682.1:g.3065200C>T	GRCh37
NC_000020.9:g.3013200C>T	NCBI36
NG_008663.1:g.5171G>A , LRG_715:g.5171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.120+1G>A MANE Select	ENSP00000369647.3:n.120+1G>A
NM_000490.4:c.120+1G>A , LRG_715t1:c.120+1G>A	NP_000481.2:n.120+1G>A
XM_011529267.1:c.120+1G>A	XP_011527569.1:n.120+1G>A
XM_011529267.2:c.120+1G>A	XP_011527569.1:n.120+1G>A
NM_000490.5:c.120+1G>A MANE Select	NP_000481.2:n.120+1G>A