Canonical Allele Identifier: CA15917210
Gene: AQP4 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.26855581A>T
GRCh37 chr18:g.24435545A>T
gnomAD v2:
18:24435545 A / T
gnomAD v3:
18:26855581 A / T
gnomAD v4:
chr18-26855581-A-T
Joint Max Group AF 0.39884492 (EAS)
Genomes Max Group AF 0.39896304 (EAS)
Exomes Max Group AF 0.07437794 (NFE)
dbSNP:
1058424
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.26855581A>T , CM000680.2:g.26855581A>T GRCh38
NC_000018.9:g.24435545A>T , CM000680.1:g.24435545A>T GRCh37
NC_000018.8:g.22689543A>T NCBI36
NG_029560.1:g.15172T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000383168.9:c.*630T>A MANE Select ENSP00000372654.4:n.*630T>A
ENST00000672188.1:c.*630T>A ENSP00000500720.1:n.*630T>A
ENST00000672981.2:c.*543T>A ENSP00000500598.2:n.*543T>A
ENST00000383168.8:c.*630T>A ENSP00000372654.4:n.*630T>A
NM_001650.4:c.*630T>A NP_001641.1:n.*630T>A
NM_004028.3:c.*630T>A NP_004019.1:n.*630T>A
XM_011525942.1:c.*630T>A XP_011524244.1:n.*630T>A
NM_001317384.2:c.*543T>A NP_001304313.1:n.*543T>A
NM_001317387.2:c.*630T>A NP_001304316.1:n.*630T>A
NM_001364286.1:c.*630T>A NP_001351215.1:n.*630T>A
NM_001364287.1:c.*543T>A NP_001351216.1:n.*543T>A
NM_001364289.1:c.*543T>A NP_001351218.1:n.*543T>A
NM_001650.6:c.*630T>A NP_001641.1:n.*630T>A
NM_004028.4:c.*630T>A NP_004019.1:n.*630T>A
XM_011525942.3:c.*630T>A XP_011524244.1:n.*630T>A
NM_001650.7:c.*630T>A MANE Select NP_001641.1:n.*630T>A
NM_001317384.3:c.*543T>A NP_001304313.1:n.*543T>A
NM_001317387.3:c.*630T>A NP_001304316.1:n.*630T>A
NM_001364289.2:c.*543T>A NP_001351218.1:n.*543T>A
NM_004028.5:c.*630T>A NP_004019.1:n.*630T>A
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