Canonical Allele Identifier: CA2641356639

Gene: AQP4

Linked Data

• gnomAD v4: 18-26855582-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855582C>A , CM000680.2:g.26855582C>A	GRCh38
NC_000018.9:g.24435546C>A , CM000680.1:g.24435546C>A	GRCh37
NC_000018.8:g.22689544C>A	NCBI36
NG_029560.1:g.15171G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383168.9:c.*629G>T MANE Select	ENSP00000372654.4:n.*629G>T
ENST00000672188.1:c.*629G>T	ENSP00000500720.1:n.*629G>T
ENST00000672981.2:c.*542G>T	ENSP00000500598.2:n.*542G>T
ENST00000383168.8:c.*629G>T	ENSP00000372654.4:n.*629G>T
NM_001650.4:c.*629G>T	NP_001641.1:n.*629G>T
NM_004028.3:c.*629G>T	NP_004019.1:n.*629G>T
XM_011525942.1:c.*629G>T	XP_011524244.1:n.*629G>T
NM_001317384.2:c.*542G>T	NP_001304313.1:n.*542G>T
NM_001317387.2:c.*629G>T	NP_001304316.1:n.*629G>T
NM_001364286.1:c.*629G>T	NP_001351215.1:n.*629G>T
NM_001364287.1:c.*542G>T	NP_001351216.1:n.*542G>T
NM_001364289.1:c.*542G>T	NP_001351218.1:n.*542G>T
NM_001650.6:c.*629G>T	NP_001641.1:n.*629G>T
NM_004028.4:c.*629G>T	NP_004019.1:n.*629G>T
XM_011525942.3:c.*629G>T	XP_011524244.1:n.*629G>T
NM_001650.7:c.*629G>T MANE Select	NP_001641.1:n.*629G>T
NM_001317384.3:c.*542G>T	NP_001304313.1:n.*542G>T
NM_001317387.3:c.*629G>T	NP_001304316.1:n.*629G>T
NM_001364289.2:c.*542G>T	NP_001351218.1:n.*542G>T
NM_004028.5:c.*629G>T	NP_004019.1:n.*629G>T