Canonical Allele Identifier: CA408061398
Gene: AVP HGNC NCBI

Linked Data

gnomAD v4: 20-3082777-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082777G>T , CM000682.2:g.3082777G>T GRCh38
NC_000020.10:g.3063423G>T , CM000682.1:g.3063423G>T GRCh37
NC_000020.9:g.3011423G>T NCBI36
NG_008663.1:g.6948C>A , LRG_715:g.6948C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.348C>A MANE Select ENSP00000369647.3:p.Cys116Ter
NM_000490.4:c.348C>A , LRG_715t1:c.348C>A NP_000481.2:p.Cys116Ter
XM_011529267.1:c.348C>A XP_011527569.1:p.Cys116Ter
XM_011529267.2:c.348C>A XP_011527569.1:p.Cys116Ter
NM_000490.5:c.348C>A MANE Select NP_000481.2:p.Cys116Ter