Canonical Allele Identifier: CA367147610
Gene: AQP1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.30912043C>A
GRCh37 chr7:g.30951658C>A
Revel Score:
ENST00000434909 0.115
ENST00000311813 (MANE Select) 0.115
ENST00000413400 0.115
ENST00000509504 0.115
gnomAD v3:
7:30912043 C / A
gnomAD v4:
chr7-30912043-C-A
Joint Max Group AF 0.00000443 (AFR)
dbSNP:
28362692
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30912043C>A , CM000669.2:g.30912043C>A GRCh38
NC_000007.13:g.30951658C>A , CM000669.1:g.30951658C>A GRCh37
NC_000007.12:g.30918183C>A NCBI36
NG_007475.2:g.63650C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311813.11:c.134C>A MANE Select ENSP00000311165.4:p.Ala45Glu
ENST00000652696.1:c.134C>A ENSP00000498672.1:p.Ala45Glu
ENST00000311813.8:c.134C>A ENSP00000311165.4:p.Ala45Glu
ENST00000509504.2:c.672C>A
NM_198098.2:c.134C>A NP_932766.1:p.Ala45Glu
NM_001329872.1:c.134C>A NP_001316801.1:p.Ala45Glu
NM_198098.3:c.134C>A NP_932766.1:p.Ala45Glu
NM_001329872.2:c.134C>A NP_001316801.1:p.Ala45Glu
NM_198098.4:c.134C>A MANE Select NP_932766.1:p.Ala45Glu
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