Canonical Allele Identifier: CA9739418

Gene: AVP

Linked Data

• dbSNP Id: rs776370930
• ExAC: 20:3063331 A / C
• gnomAD v2: 20-3063331-A-C
• gnomAD v3: 20-3082685-A-C
• gnomAD v4: 20-3082685-A-C
• MyVariant Identifiers: chr20:g.3063331A>C (hg19) ; chr20:g.3082685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082685A>C , CM000682.2:g.3082685A>C	GRCh38
NC_000020.10:g.3063331A>C , CM000682.1:g.3063331A>C	GRCh37
NC_000020.9:g.3011331A>C	NCBI36
NG_008663.1:g.7040T>G , LRG_715:g.7040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.440T>G MANE Select	ENSP00000369647.3:p.Val147Gly
NM_000490.4:c.440T>G , LRG_715t1:c.440T>G	NP_000481.2:p.Val147Gly
XM_011529267.1:c.440T>G	XP_011527569.1:p.Val147Gly
XM_011529267.2:c.440T>G	XP_011527569.1:p.Val147Gly
NM_000490.5:c.440T>G MANE Select	NP_000481.2:p.Val147Gly