Canonical Allele Identifier: CA9739486
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 2302621
ClinVar RCV Id: RCV002855616
dbSNP Id: rs761625433
ExAC: 20:3065203 G / C
gnomAD v2: 20-3065203-G-C
gnomAD v3: 20-3084557-G-C
gnomAD v4: 20-3084557-G-C
MyVariant Identifiers: chr20:g.3065203G>C (hg19) chr20:g.3084557G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084557G>C , CM000682.2:g.3084557G>C GRCh38
NC_000020.10:g.3065203G>C , CM000682.1:g.3065203G>C GRCh37
NC_000020.9:g.3013203G>C NCBI36
NG_008663.1:g.5168C>G , LRG_715:g.5168C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.118C>G MANE Select ENSP00000369647.3:p.Gln40Glu
NM_000490.4:c.118C>G , LRG_715t1:c.118C>G NP_000481.2:p.Gln40Glu
XM_011529267.1:c.118C>G XP_011527569.1:p.Gln40Glu
XM_011529267.2:c.118C>G XP_011527569.1:p.Gln40Glu
NM_000490.5:c.118C>G MANE Select NP_000481.2:p.Gln40Glu
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