Canonical Allele Identifier: CA129088

Gene: AQP7

Linked Data

• ClinVar Variation Id: 6732
• ClinVar RCV Id: RCV000023224
• dbSNP Id: rs62542743
• ExAC: 9:33385241 C / A
• gnomAD v2: 9-33385241-C-A
• gnomAD v3: 9-33385243-C-A
• gnomAD v4: 9-33385243-C-A
• COSMIC: COSM3763887
• MyVariant Identifiers: chr9:g.33385241C>A (hg19) ; chr9:g.33385243C>A (hg38)
• PubMed: PMID:11952783 ; PMID:17566090 ; PMID:22899094

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33385243C>A , CM000671.2:g.33385243C>A	GRCh38
NC_000009.11:g.33385241C>A , CM000671.1:g.33385241C>A	GRCh37
NC_000009.10:g.33375241C>A	NCBI36
NG_027764.1:g.22277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297988.6:c.791G>T MANE Select	ENSP00000297988.1:p.Gly264Val
ENST00000297988.5:c.791G>T	ENSP00000297988.1:p.Gly264Val
ENST00000377425.8:c.573-12G>T	ENSP00000396111.2:n.573-12G>T
ENST00000379507.7:c.788G>T	ENSP00000368821.3:p.Gly263Val
ENST00000537089.5:c.*869G>T	ENSP00000441619.2:n.*869G>T
ENST00000623097.3:n.452-12G>T
NM_001170.1:c.791G>T	NP_001161.1:p.Gly264Val
XM_005251453.2:c.791G>T	XP_005251510.1:p.Gly264Val
XM_006716765.2:c.620G>T	XP_006716828.1:p.Gly207Val
XM_011517865.1:c.794G>T	XP_011516167.1:p.Gly265Val
XM_011517866.1:c.791G>T	XP_011516168.1:p.Gly264Val
XM_011517867.1:c.620G>T	XP_011516169.1:p.Gly207Val
XM_011517868.1:c.747-12G>T	XP_011516170.1:n.747-12G>T
XM_011517869.1:c.573-12G>T	XP_011516171.1:n.573-12G>T
NM_001170.2:c.791G>T	NP_001161.1:p.Gly264Val
NM_001318156.1:c.573-12G>T	NP_001305085.1:n.573-12G>T
NM_001318157.1:c.*375G>T	NP_001305086.1:n.*375G>T
NM_001318158.1:c.*375G>T	NP_001305087.1:n.*375G>T
NR_134513.1:n.1241G>T
NR_134514.1:n.1360G>T
NR_134515.1:n.1511G>T
XM_005251453.3:c.791G>T	XP_005251510.1:p.Gly264Val
XM_006716765.3:c.620G>T	XP_006716828.1:p.Gly207Val
XM_011517866.3:c.791G>T	XP_011516168.1:p.Gly264Val
XM_011517867.2:c.620G>T	XP_011516169.1:p.Gly207Val
XM_017014700.1:c.788G>T	XP_016870189.1:p.Gly263Val
XM_017014701.1:c.515G>T	XP_016870190.1:p.Gly172Val
XM_017014702.2:c.515G>T	XP_016870191.1:p.Gly172Val
XM_017014704.1:c.515G>T	XP_016870193.1:p.Gly172Val
XM_017014705.2:c.515G>T	XP_016870194.1:p.Gly172Val
XM_017014706.2:c.*375G>T	XP_016870195.1:n.*375G>T
XM_024447535.1:c.744-12G>T	XP_024303303.1:n.744-12G>T
XM_024447536.1:c.744-12G>T	XP_024303304.1:n.744-12G>T
XM_024447537.1:c.515G>T	XP_024303305.1:p.Gly172Val
XM_024447538.1:c.515G>T	XP_024303306.1:p.Gly172Val
XM_024447539.1:c.468-12G>T	XP_024303307.1:n.468-12G>T
NM_001170.3:c.791G>T MANE Select	NP_001161.1:p.Gly264Val
NM_001376191.1:c.791G>T	NP_001363120.1:p.Gly264Val
NM_001376192.1:c.744-12G>T	NP_001363121.1:n.744-12G>T
NM_001376193.1:c.744-12G>T	NP_001363122.1:n.744-12G>T
NR_164778.1:n.1025G>T
NR_164779.1:n.770G>T
NM_001318156.2:c.573-12G>T	NP_001305085.1:n.573-12G>T
NM_001318157.2:c.*375G>T	NP_001305086.1:n.*375G>T
NM_001318158.2:c.*375G>T	NP_001305087.1:n.*375G>T
NR_134513.2:n.1127G>T
NR_134514.2:n.1246G>T
NR_134515.2:n.1397G>T