Canonical Allele Identifier: CA628719956

Gene: AQP4

Linked Data

• dbSNP Id: rs1313972260
• gnomAD v2: 18-24435550-G-C
• gnomAD v3: 18-26855586-G-C
• gnomAD v4: 18-26855586-G-C
• MyVariant Identifiers: chr18:g.24435550G>C (hg19) ; chr18:g.26855586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855586G>C , CM000680.2:g.26855586G>C	GRCh38
NC_000018.9:g.24435550G>C , CM000680.1:g.24435550G>C	GRCh37
NC_000018.8:g.22689548G>C	NCBI36
NG_029560.1:g.15167C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383168.9:c.*625C>G MANE Select	ENSP00000372654.4:n.*625C>G
ENST00000672188.1:c.*625C>G	ENSP00000500720.1:n.*625C>G
ENST00000672981.2:c.*538C>G	ENSP00000500598.2:n.*538C>G
ENST00000383168.8:c.*625C>G	ENSP00000372654.4:n.*625C>G
NM_001650.4:c.*625C>G	NP_001641.1:n.*625C>G
NM_004028.3:c.*625C>G	NP_004019.1:n.*625C>G
XM_011525942.1:c.*625C>G	XP_011524244.1:n.*625C>G
NM_001317384.2:c.*538C>G	NP_001304313.1:n.*538C>G
NM_001317387.2:c.*625C>G	NP_001304316.1:n.*625C>G
NM_001364286.1:c.*625C>G	NP_001351215.1:n.*625C>G
NM_001364287.1:c.*538C>G	NP_001351216.1:n.*538C>G
NM_001364289.1:c.*538C>G	NP_001351218.1:n.*538C>G
NM_001650.6:c.*625C>G	NP_001641.1:n.*625C>G
NM_004028.4:c.*625C>G	NP_004019.1:n.*625C>G
XM_011525942.3:c.*625C>G	XP_011524244.1:n.*625C>G
NM_001650.7:c.*625C>G MANE Select	NP_001641.1:n.*625C>G
NM_001317384.3:c.*538C>G	NP_001304313.1:n.*538C>G
NM_001317387.3:c.*625C>G	NP_001304316.1:n.*625C>G
NM_001364289.2:c.*538C>G	NP_001351218.1:n.*538C>G
NM_004028.5:c.*625C>G	NP_004019.1:n.*625C>G