Canonical Allele Identifier: CA628719951

Gene: AQP4

Linked Data

• dbSNP Id: rs1315611242
• gnomAD v2: 18-24435535-G-T
• gnomAD v3: 18-26855571-G-T
• gnomAD v4: 18-26855571-G-T
• MyVariant Identifiers: chr18:g.24435535G>T (hg19) ; chr18:g.26855571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855571G>T , CM000680.2:g.26855571G>T	GRCh38
NC_000018.9:g.24435535G>T , CM000680.1:g.24435535G>T	GRCh37
NC_000018.8:g.22689533G>T	NCBI36
NG_029560.1:g.15182C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.*640C>A MANE Select	ENSP00000372654.4:n.*640C>A
ENST00000672188.1:c.*640C>A	ENSP00000500720.1:n.*640C>A
ENST00000672981.2:c.*553C>A	ENSP00000500598.2:n.*553C>A
ENST00000383168.8:c.*640C>A	ENSP00000372654.4:n.*640C>A
NM_001650.4:c.*640C>A	NP_001641.1:n.*640C>A
NM_004028.3:c.*640C>A	NP_004019.1:n.*640C>A
XM_011525942.1:c.*640C>A	XP_011524244.1:n.*640C>A
NM_001317384.2:c.*553C>A	NP_001304313.1:n.*553C>A
NM_001317387.2:c.*640C>A	NP_001304316.1:n.*640C>A
NM_001364286.1:c.*640C>A	NP_001351215.1:n.*640C>A
NM_001364287.1:c.*553C>A	NP_001351216.1:n.*553C>A
NM_001364289.1:c.*553C>A	NP_001351218.1:n.*553C>A
NM_001650.6:c.*640C>A	NP_001641.1:n.*640C>A
NM_004028.4:c.*640C>A	NP_004019.1:n.*640C>A
XM_011525942.3:c.*640C>A	XP_011524244.1:n.*640C>A
NM_001650.7:c.*640C>A MANE Select	NP_001641.1:n.*640C>A
NM_001317384.3:c.*553C>A	NP_001304313.1:n.*553C>A
NM_001317387.3:c.*640C>A	NP_001304316.1:n.*640C>A
NM_001364289.2:c.*553C>A	NP_001351218.1:n.*553C>A
NM_004028.5:c.*640C>A	NP_004019.1:n.*640C>A