Canonical Allele Identifier: CA2811895067

Gene: AQP4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855176G>C , CM000680.2:g.26855176G>C	GRCh38
NC_000018.9:g.24435140G>C , CM000680.1:g.24435140G>C	GRCh37
NC_000018.8:g.22689138G>C	NCBI36
NG_029560.1:g.15577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383168.9:c.*1035C>G MANE Select	ENSP00000372654.4:n.*1035C>G
ENST00000672188.1:c.*1035C>G	ENSP00000500720.1:n.*1035C>G
ENST00000672981.2:c.*948C>G	ENSP00000500598.2:n.*948C>G
ENST00000383168.8:c.*1035C>G	ENSP00000372654.4:n.*1035C>G
NM_001650.4:c.*1035C>G	NP_001641.1:n.*1035C>G
NM_004028.3:c.*1035C>G	NP_004019.1:n.*1035C>G
XM_011525942.1:c.*1035C>G	XP_011524244.1:n.*1035C>G
NM_001317384.2:c.*948C>G	NP_001304313.1:n.*948C>G
NM_001317387.2:c.*1035C>G	NP_001304316.1:n.*1035C>G
NM_001364286.1:c.*1035C>G	NP_001351215.1:n.*1035C>G
NM_001364287.1:c.*948C>G	NP_001351216.1:n.*948C>G
NM_001364289.1:c.*948C>G	NP_001351218.1:n.*948C>G
NM_001650.6:c.*1035C>G	NP_001641.1:n.*1035C>G
NM_004028.4:c.*1035C>G	NP_004019.1:n.*1035C>G
XM_011525942.3:c.*1035C>G	XP_011524244.1:n.*1035C>G
NM_001650.7:c.*1035C>G MANE Select	NP_001641.1:n.*1035C>G
NM_001317384.3:c.*948C>G	NP_001304313.1:n.*948C>G
NM_001317387.3:c.*1035C>G	NP_001304316.1:n.*1035C>G
NM_001364289.2:c.*948C>G	NP_001351218.1:n.*948C>G
NM_004028.5:c.*1035C>G	NP_004019.1:n.*1035C>G