Canonical Allele Identifier: CA634168435

Gene: AVP

Linked Data

• dbSNP Id: rs1430869836
• gnomAD v2: 20-3064816-T-C
• gnomAD v3: 20-3084170-T-C
• gnomAD v4: 20-3084170-T-C
• MyVariant Identifiers: chr20:g.3064816T>C (hg19) ; chr20:g.3084170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3084170T>C , CM000682.2:g.3084170T>C	GRCh38
NC_000020.10:g.3064816T>C , CM000682.1:g.3064816T>C	GRCh37
NC_000020.9:g.3012816T>C	NCBI36
NG_008663.1:g.5555A>G , LRG_715:g.5555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.120+385A>G MANE Select	ENSP00000369647.3:n.120+385A>G
NM_000490.4:c.120+385A>G , LRG_715t1:c.120+385A>G	NP_000481.2:n.120+385A>G
XM_011529267.1:c.120+385A>G	XP_011527569.1:n.120+385A>G
XM_011529267.2:c.120+385A>G	XP_011527569.1:n.120+385A>G
NM_000490.5:c.120+385A>G MANE Select	NP_000481.2:n.120+385A>G