Canonical Allele Identifier: CA8922572

Gene: AQP4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26860822C>T , CM000680.2:g.26860822C>T	GRCh38
NC_000018.9:g.24440786C>T , CM000680.1:g.24440786C>T	GRCh37
NC_000018.8:g.22694784C>T	NCBI36
NG_029560.1:g.9931G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001650.7:c.643G>A MANE Select	NP_001641.1:p.Ala215Thr
ENST00000383168.9:c.643G>A MANE Select	ENSP00000372654.4:p.Ala215Thr
NM_001317384.2:c.643G>A	NP_001304313.1:p.Ala215Thr
NM_001317384.3:c.643G>A	NP_001304313.1:p.Ala215Thr
NM_001317387.2:c.612+309G>A	NP_001304316.1:n.612+309G>A
NM_001317387.3:c.612+309G>A	NP_001304316.1:n.612+309G>A
NM_001364286.1:c.577G>A	NP_001351215.1:p.Ala193Thr
NM_001364287.1:c.577G>A	NP_001351216.1:p.Ala193Thr
NM_001364289.1:c.577G>A	NP_001351218.1:p.Ala193Thr
NM_001364289.2:c.577G>A	NP_001351218.1:p.Ala193Thr
NM_001650.4:c.643G>A	NP_001641.1:p.Ala215Thr
NM_001650.6:c.643G>A	NP_001641.1:p.Ala215Thr
NM_004028.3:c.577G>A	NP_004019.1:p.Ala193Thr
NM_004028.4:c.577G>A	NP_004019.1:p.Ala193Thr
NM_004028.5:c.577G>A	NP_004019.1:p.Ala193Thr
ENST00000383168.8:c.643G>A	ENSP00000372654.4:p.Ala215Thr
ENST00000440832.7:c.577G>A	ENSP00000393121.3:p.Ala193Thr
ENST00000578776.1:c.520G>A	ENSP00000462075.1:p.Ala174Thr
ENST00000581374.5:c.577G>A	ENSP00000462597.1:p.Ala193Thr
ENST00000583022.5:n.355G>A
ENST00000584088.1:n.421G>A
ENST00000622234.4:c.612+309G>A	ENSP00000484446.1:n.612+309G>A
ENST00000672188.1:c.643G>A	ENSP00000500720.1:p.Ala215Thr
ENST00000672981.2:c.643G>A	ENSP00000500598.2:p.Ala215Thr
ENST00000675739.1:c.612+309G>A	ENSP00000502364.1:n.612+309G>A
XM_011525942.1:c.622G>A	XP_011524244.1:p.Ala208Thr
XM_011525942.3:c.622G>A	XP_011524244.1:p.Ala208Thr