Canonical Allele Identifier: CA2291649358

Gene: AQP4

Linked Data

• dbSNP Id: rs2055031010
• gnomAD v3: 18-26864961-T-C
• gnomAD v4: 18-26864961-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26864961T>C , CM000680.2:g.26864961T>C	GRCh38
NC_000018.9:g.24444925T>C , CM000680.1:g.24444925T>C	GRCh37
NC_000018.8:g.22698923T>C	NCBI36
NG_029560.1:g.5792A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.32+697A>G MANE Select	ENSP00000372654.4:n.32+697A>G
ENST00000672188.1:c.32+697A>G	ENSP00000500720.1:n.32+697A>G
ENST00000672981.2:c.32+697A>G	ENSP00000500598.2:n.32+697A>G
ENST00000675739.1:c.32+697A>G	ENSP00000502364.1:n.32+697A>G
ENST00000383168.8:c.32+697A>G	ENSP00000372654.4:n.32+697A>G
ENST00000383170.3:c.32+697A>G	ENSP00000372656.3:n.32+697A>G
ENST00000578776.1:c.32+697A>G	ENSP00000462075.1:n.32+697A>G
ENST00000622234.4:c.32+697A>G	ENSP00000484446.1:n.32+697A>G
NM_001650.4:c.32+697A>G	NP_001641.1:n.32+697A>G
NM_001317384.2:c.32+697A>G	NP_001304313.1:n.32+697A>G
NM_001317387.2:c.32+697A>G	NP_001304316.1:n.32+697A>G
NM_001364286.1:c.-35+697A>G	NP_001351215.1:n.-35+697A>G
NM_001364287.1:c.-35+697A>G	NP_001351216.1:n.-35+697A>G
NM_001650.6:c.32+697A>G	NP_001641.1:n.32+697A>G
NM_001650.7:c.32+697A>G MANE Select	NP_001641.1:n.32+697A>G
NM_001317384.3:c.32+697A>G	NP_001304313.1:n.32+697A>G
NM_001317387.3:c.32+697A>G	NP_001304316.1:n.32+697A>G