Canonical Allele Identifier: CA9739432

Gene: AVP

Linked Data

• dbSNP Id: rs780084300
• ExAC: 20:3063592 C / G
• gnomAD v3: 20-3082946-C-G
• gnomAD v4: 20-3082946-C-G
• MyVariant Identifiers: chr20:g.3063592C>G (hg19) ; chr20:g.3082946C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082946C>G , CM000682.2:g.3082946C>G	GRCh38
NC_000020.10:g.3063592C>G , CM000682.1:g.3063592C>G	GRCh37
NC_000020.9:g.3011592C>G	NCBI36
NG_008663.1:g.6779G>C , LRG_715:g.6779G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.322+31G>C MANE Select	ENSP00000369647.3:n.322+31G>C
NM_000490.4:c.322+31G>C , LRG_715t1:c.322+31G>C	NP_000481.2:n.322+31G>C
XM_011529267.1:c.322+31G>C	XP_011527569.1:n.322+31G>C
XM_011529267.2:c.322+31G>C	XP_011527569.1:n.322+31G>C
NM_000490.5:c.322+31G>C MANE Select	NP_000481.2:n.322+31G>C