Canonical Allele Identifier: CA127494

Gene: AQP1

Linked Data

• ClinVar Variation Id: 17846
• ClinVar RCV Id: RCV002054449
• dbSNP Id: rs28362692
• ExAC: 7:30951658 C / T
• gnomAD v2: 7-30951658-C-T
• gnomAD v3: 7-30912043-C-T
• gnomAD v4: 7-30912043-C-T
• MyVariant Identifiers: chr7:g.30951658C>T (hg19) ; chr7:g.30912043C>T (hg38)
• PubMed: PMID:7521882

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000311813.11:c.134C>T MANE Select	ENSP00000311165.4:p.Ala45Val
ENST00000652696.1:c.134C>T	ENSP00000498672.1:p.Ala45Val
ENST00000311813.8:c.134C>T	ENSP00000311165.4:p.Ala45Val
ENST00000509504.2:c.672C>T
NM_198098.2:c.134C>T	NP_932766.1:p.Ala45Val
NM_001329872.1:c.134C>T	NP_001316801.1:p.Ala45Val
NM_198098.3:c.134C>T	NP_932766.1:p.Ala45Val
NM_001329872.2:c.134C>T	NP_001316801.1:p.Ala45Val
NM_198098.4:c.134C>T MANE Select	NP_932766.1:p.Ala45Val