Canonical Allele Identifier: CA408061434
Gene: AVP HGNC NCBI

Linked Data

gnomAD v4: 20-3082796-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082796C>A , CM000682.2:g.3082796C>A GRCh38
NC_000020.10:g.3063442C>A , CM000682.1:g.3063442C>A GRCh37
NC_000020.9:g.3011442C>A NCBI36
NG_008663.1:g.6929G>T , LRG_715:g.6929G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.329G>T MANE Select ENSP00000369647.3:p.Cys110Phe
NM_000490.4:c.329G>T , LRG_715t1:c.329G>T NP_000481.2:p.Cys110Phe
XM_011529267.1:c.329G>T XP_011527569.1:p.Cys110Phe
XM_011529267.2:c.329G>T XP_011527569.1:p.Cys110Phe
NM_000490.5:c.329G>T MANE Select NP_000481.2:p.Cys110Phe