Canonical Allele Identifier: CA8922749
Gene: AQP4 HGNC NCBI
AQP4-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.26865728C>T
GRCh37 chr18:g.24445692C>T
gnomAD v2:
18:24445692 C / T
gnomAD v3:
18:26865728 C / T
gnomAD v4:
chr18-26865728-C-T
Joint Max Group AF 0.35892064 (EAS)
Genomes Max Group AF 0.34902847 (EAS)
Exomes Max Group AF 0.35874258 (EAS)
dbSNP:
162008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.26865728C>T , CM000680.2:g.26865728C>T GRCh38
NC_000018.9:g.24445692C>T , CM000680.1:g.24445692C>T GRCh37
NC_000018.8:g.22699690C>T NCBI36
NG_029560.1:g.5025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000672188.1:c.-39G>A (AQP4) ENSP00000500720.1:n.-39G>A
ENST00000383168.8:c.-39G>A (AQP4) ENSP00000372654.4:n.-39G>A
ENST00000383170.3:c.-39G>A (AQP4) ENSP00000372656.3:n.-39G>A
NM_001650.4:c.-39G>A (AQP4) NP_001641.1:n.-39G>A
NR_026908.1:n.53+368C>T (AQP4-AS1)
NM_001317384.2:c.-39G>A (AQP4) NP_001304313.1:n.-39G>A
NM_001317387.2:c.-39G>A (AQP4) NP_001304316.1:n.-39G>A
NM_001364286.1:c.-105G>A (AQP4) NP_001351215.1:n.-105G>A
NM_001364287.1:c.-105G>A (AQP4) NP_001351216.1:n.-105G>A
NM_001650.6:c.-39G>A (AQP4) NP_001641.1:n.-39G>A
Search 100 bp 5'
Search 100 bp 3'