Canonical Allele Identifier: CA628719939

Gene: AQP4

Linked Data

• dbSNP Id: rs1239362600
• gnomAD v2: 18-24435444-AT-A
• MyVariant Identifiers: chr18:g.24435445del (hg19) ; chr18:g.26855481del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855484del , CM000680.2:g.26855484del	GRCh38
NC_000018.9:g.24435448del , CM000680.1:g.24435448del	GRCh37
NC_000018.8:g.22689446del	NCBI36
NG_029560.1:g.15272del

Transcript Alleles

HGVS	Amino-acid change
ENST00000383168.9:c.*730del MANE Select	ENSP00000372654.4:n.*730del
ENST00000672188.1:c.*730del	ENSP00000500720.1:n.*730del
ENST00000672981.2:c.*643del	ENSP00000500598.2:n.*643del
ENST00000383168.8:c.*730del	ENSP00000372654.4:n.*730del
NM_001650.4:c.*730del	NP_001641.1:n.*730del
NM_004028.3:c.*730del	NP_004019.1:n.*730del
XM_011525942.1:c.*730del	XP_011524244.1:n.*730del
NM_001317384.2:c.*643del	NP_001304313.1:n.*643del
NM_001317387.2:c.*730del	NP_001304316.1:n.*730del
NM_001364286.1:c.*730del	NP_001351215.1:n.*730del
NM_001364287.1:c.*643del	NP_001351216.1:n.*643del
NM_001364289.1:c.*643del	NP_001351218.1:n.*643del
NM_001650.6:c.*730del	NP_001641.1:n.*730del
NM_004028.4:c.*730del	NP_004019.1:n.*730del
XM_011525942.3:c.*730del	XP_011524244.1:n.*730del
NM_001650.7:c.*730del MANE Select	NP_001641.1:n.*730del
NM_001317384.3:c.*643del	NP_001304313.1:n.*643del
NM_001317387.3:c.*730del	NP_001304316.1:n.*730del
NM_001364289.2:c.*643del	NP_001351218.1:n.*643del
NM_004028.5:c.*730del	NP_004019.1:n.*730del