Canonical Allele Identifier: CA14767464
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 1182116
ClinVar RCV Id: RCV001539671
dbSNP Id: rs2282018
gnomAD v2: 20-3064949-C-T
gnomAD v3: 20-3084303-C-T
gnomAD v4: 20-3084303-C-T
MyVariant Identifiers: chr20:g.3064949C>T (hg19) chr20:g.3084303C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084303C>T , CM000682.2:g.3084303C>T GRCh38
NC_000020.10:g.3064949C>T , CM000682.1:g.3064949C>T GRCh37
NC_000020.9:g.3012949C>T NCBI36
NG_008663.1:g.5422G>A , LRG_715:g.5422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.120+252G>A MANE Select ENSP00000369647.3:n.120+252G>A
NM_000490.4:c.120+252G>A , LRG_715t1:c.120+252G>A NP_000481.2:n.120+252G>A
XM_011529267.1:c.120+252G>A XP_011527569.1:n.120+252G>A
XM_011529267.2:c.120+252G>A XP_011527569.1:n.120+252G>A
NM_000490.5:c.120+252G>A MANE Select NP_000481.2:n.120+252G>A
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