Canonical Allele Identifier: CA12502363
Gene: AQP1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.30924207G>C
GRCh37 chr7:g.30963822G>C
gnomAD v2:
7:30963822 G / C
gnomAD v3:
7:30924207 G / C
gnomAD v4:
chr7-30924207-G-C
Joint Max Group AF 0.83154699 (AFR)
Genomes Max Group AF 0.82253131 (AFR)
Exomes Max Group AF 0.84571814 (AFR)
dbSNP:
1049305
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30924207G>C , CM000669.2:g.30924207G>C GRCh38
NC_000007.13:g.30963822G>C , CM000669.1:g.30963822G>C GRCh37
NC_000007.12:g.30930347G>C NCBI36
NG_007475.2:g.75814G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311813.11:c.*578G>C MANE Select ENSP00000311165.4:n.*578G>C
ENST00000441328.7:n.522G>C
ENST00000652692.1:c.622+554G>C
ENST00000652696.1:c.*405G>C ENSP00000498672.1:n.*405G>C
ENST00000311813.8:c.*578G>C ENSP00000311165.4:n.*578G>C
ENST00000441328.6:c.*578G>C ENSP00000405698.2:n.*578G>C
NM_001185060.1:c.*578G>C NP_001171989.1:n.*578G>C
NM_001185061.1:c.*578G>C NP_001171990.1:n.*578G>C
NM_001185062.1:c.*578G>C NP_001171991.1:n.*578G>C
NM_198098.2:c.*578G>C NP_932766.1:n.*578G>C
NM_001329872.1:c.*198G>C NP_001316801.1:n.*198G>C
NM_198098.3:c.*578G>C NP_932766.1:n.*578G>C
NM_001329872.2:c.*198G>C NP_001316801.1:n.*198G>C
NM_198098.4:c.*578G>C MANE Select NP_932766.1:n.*578G>C
Search 100 bp 5'
Search 100 bp 3'