Canonical Allele Identifier: CA236694431
Gene: AQP5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.49964271A>G
GRCh37 chr12:g.50358054A>G
gnomAD v2:
12:50358054 A / G
gnomAD v3:
12:49964271 A / G
gnomAD v4:
chr12-49964271-A-G
Joint Max Group AF 0.35059276 (EAS)
Genomes Max Group AF 0.33548317 (EAS)
Exomes Max Group AF 0.35115607 (EAS)
ClinVar RCV:
RCV001690147
ClinVar Variation:
1276842
dbSNP:
3736309
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49964271A>G , CM000674.2:g.49964271A>G GRCh38
NC_000012.11:g.50358054A>G , CM000674.1:g.50358054A>G GRCh37
NC_000012.10:g.48644321A>G NCBI36
NG_033883.1:g.7776A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293599.7:c.612+96A>G MANE Select ENSP00000293599.5:n.612+96A>G
ENST00000293599.6:c.612+96A>G ENSP00000293599.5:n.612+96A>G
ENST00000553132.1:n.601+96A>G
NM_001651.3:c.612+96A>G NP_001642.1:n.612+96A>G
XM_005268838.2:c.612+96A>G XP_005268895.1:n.612+96A>G
NM_001651.4:c.612+96A>G MANE Select NP_001642.1:n.612+96A>G
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