Canonical Allele Identifier: CA9739417

Gene: AVP

Linked Data

• dbSNP Id: rs765910191
• ExAC: 20:3063311 C / T
• gnomAD v2: 20-3063311-C-T
• gnomAD v3: 20-3082665-C-T
• gnomAD v4: 20-3082665-C-T
• MyVariant Identifiers: chr20:g.3063311C>T (hg19) ; chr20:g.3082665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082665C>T , CM000682.2:g.3082665C>T	GRCh38
NC_000020.10:g.3063311C>T , CM000682.1:g.3063311C>T	GRCh37
NC_000020.9:g.3011311C>T	NCBI36
NG_008663.1:g.7060G>A , LRG_715:g.7060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.460G>A MANE Select	ENSP00000369647.3:p.Glu154Lys
NM_000490.4:c.460G>A , LRG_715t1:c.460G>A	NP_000481.2:p.Glu154Lys
XM_011529267.1:c.460G>A	XP_011527569.1:p.Glu154Lys
XM_011529267.2:c.460G>A	XP_011527569.1:p.Glu154Lys
NM_000490.5:c.460G>A MANE Select	NP_000481.2:p.Glu154Lys