Canonical Allele Identifier: CA127496
Gene: AQP1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.30912022C>T
GRCh37 chr7:g.30951637C>T
Revel Score:
ENST00000434909 0.671
ENST00000311813 (MANE Select) 0.671
ENST00000413400 0.671
ENST00000509504 0.671
gnomAD v2:
7:30951637 C / T
gnomAD v3:
7:30912022 C / T
gnomAD v4:
chr7-30912022-C-T
Joint Max Group AF 0.00001376 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
ClinVar RCV:
RCV000019425
ClinVar Variation:
17847
dbSNP:
104894004
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30912022C>T , CM000669.2:g.30912022C>T GRCh38
NC_000007.13:g.30951637C>T , CM000669.1:g.30951637C>T GRCh37
NC_000007.12:g.30918162C>T NCBI36
NG_007475.2:g.63629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311813.11:c.113C>T MANE Select ENSP00000311165.4:p.Pro38Leu
ENST00000652696.1:c.113C>T ENSP00000498672.1:p.Pro38Leu
ENST00000311813.8:c.113C>T ENSP00000311165.4:p.Pro38Leu
ENST00000509504.2:c.651C>T
NM_198098.2:c.113C>T NP_932766.1:p.Pro38Leu
NM_001329872.1:c.113C>T NP_001316801.1:p.Pro38Leu
NM_198098.3:c.113C>T NP_932766.1:p.Pro38Leu
NM_001329872.2:c.113C>T NP_001316801.1:p.Pro38Leu
NM_198098.4:c.113C>T MANE Select NP_932766.1:p.Pro38Leu
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