Canonical Allele Identifier: CA297672949

Gene: AQP4

Linked Data

• dbSNP Id: rs1044803106
• gnomAD v3: 18-26864930-C-G
• gnomAD v4: 18-26864930-C-G
• MyVariant Identifiers: chr18:g.24444894C>G (hg19) ; chr18:g.26864930C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26864930C>G , CM000680.2:g.26864930C>G	GRCh38
NC_000018.9:g.24444894C>G , CM000680.1:g.24444894C>G	GRCh37
NC_000018.8:g.22698892C>G	NCBI36
NG_029560.1:g.5823G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.32+728G>C MANE Select	ENSP00000372654.4:n.32+728G>C
ENST00000672188.1:c.32+728G>C	ENSP00000500720.1:n.32+728G>C
ENST00000672981.2:c.32+728G>C	ENSP00000500598.2:n.32+728G>C
ENST00000675739.1:c.32+728G>C	ENSP00000502364.1:n.32+728G>C
ENST00000383168.8:c.32+728G>C	ENSP00000372654.4:n.32+728G>C
ENST00000383170.3:c.32+728G>C	ENSP00000372656.3:n.32+728G>C
ENST00000578776.1:c.32+728G>C	ENSP00000462075.1:n.32+728G>C
ENST00000622234.4:c.32+728G>C	ENSP00000484446.1:n.32+728G>C
NM_001650.4:c.32+728G>C	NP_001641.1:n.32+728G>C
NM_001317384.2:c.32+728G>C	NP_001304313.1:n.32+728G>C
NM_001317387.2:c.32+728G>C	NP_001304316.1:n.32+728G>C
NM_001364286.1:c.-35+728G>C	NP_001351215.1:n.-35+728G>C
NM_001364287.1:c.-35+728G>C	NP_001351216.1:n.-35+728G>C
NM_001650.6:c.32+728G>C	NP_001641.1:n.32+728G>C
NM_001650.7:c.32+728G>C MANE Select	NP_001641.1:n.32+728G>C
NM_001317384.3:c.32+728G>C	NP_001304313.1:n.32+728G>C
NM_001317387.3:c.32+728G>C	NP_001304316.1:n.32+728G>C