Canonical Allele Identifier: CA2340690

Gene: ANO10

Linked Data

• ClinVar Variation Id: 446831
• ClinVar RCV Id: RCV000516307
• dbSNP Id: rs759026322
• ExAC: 3:43591294 G / A
• gnomAD v2: 3-43591294-G-A
• gnomAD v3: 3-43549802-G-A
• gnomAD v4: 3-43549802-G-A
• COSMIC: COSM1182999
• MyVariant Identifiers: chr3:g.43591294G>A (hg19) ; chr3:g.43549802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43549802G>A , CM000665.2:g.43549802G>A	GRCh38
NC_000003.11:g.43591294G>A , CM000665.1:g.43591294G>A	GRCh37
NC_000003.10:g.43566298G>A	NCBI36
NG_028216.1:g.77267C>T
NG_028216.2:g.146793C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000292246.8:c.1715C>T MANE Select	ENSP00000292246.3:p.Ala572Val
ENST00000292246.7:c.1715C>T	ENSP00000292246.3:p.Ala572Val
ENST00000350459.8:c.1145C>T	ENSP00000327767.4:p.Ala382Val
ENST00000396091.7:c.1517C>T	ENSP00000379398.3:p.Ala506Val
ENST00000414522.6:c.1715C>T	ENSP00000396990.2:p.Ala572Val
ENST00000448045.1:c.298C>T
ENST00000451430.6:c.1382C>T	ENSP00000394119.2:p.Ala461Val
NM_001204831.1:c.1715C>T	NP_001191760.1:p.Ala572Val
NM_001204832.1:c.1517C>T	NP_001191761.1:p.Ala506Val
NM_001204833.1:c.1382C>T	NP_001191762.1:p.Ala461Val
NM_001204834.1:c.1145C>T	NP_001191763.1:p.Ala382Val
NM_018075.3:c.1715C>T	NP_060545.3:p.Ala572Val
XM_011533882.1:c.1832C>T	XP_011532184.1:p.Ala611Val
XM_011533883.1:c.1832C>T	XP_011532185.1:p.Ala611Val
XM_011533884.1:c.1715C>T	XP_011532186.1:p.Ala572Val
XM_011533885.1:c.1832C>T	XP_011532187.1:p.Ala611Val
XM_011533886.1:c.1832C>T	XP_011532188.1:p.Ala611Val
XM_011533887.1:c.1832C>T	XP_011532189.1:p.Ala611Val
XM_011533888.1:c.1634C>T	XP_011532190.1:p.Ala545Val
XM_011533889.1:c.1832C>T	XP_011532191.1:p.Ala611Val
XM_011533890.1:c.1832C>T	XP_011532192.1:p.Ala611Val
NM_001204831.2:c.1715C>T	NP_001191760.1:p.Ala572Val
NM_001204832.2:c.1517C>T	NP_001191761.1:p.Ala506Val
NM_001204833.2:c.1382C>T	NP_001191762.1:p.Ala461Val
NM_001204834.2:c.1145C>T	NP_001191763.1:p.Ala382Val
NM_001346463.1:c.1832C>T	NP_001333392.1:p.Ala611Val
NM_001346464.1:c.1832C>T	NP_001333393.1:p.Ala611Val
NM_001346465.1:c.1715C>T	NP_001333394.1:p.Ala572Val
NM_001346466.1:c.1517C>T	NP_001333395.1:p.Ala506Val
NM_001346467.1:c.1832C>T	NP_001333396.1:p.Ala611Val
NM_001346468.1:c.1715C>T	NP_001333397.1:p.Ala572Val
NM_001346469.1:c.1517C>T	NP_001333398.1:p.Ala506Val
NM_018075.4:c.1715C>T	NP_060545.3:p.Ala572Val
XM_011533885.3:c.1832C>T	XP_011532187.2:p.Ala611Val
XM_011533889.3:c.1832C>T	XP_011532191.1:p.Ala611Val
XM_011533890.3:c.1832C>T	XP_011532192.1:p.Ala611Val
XM_017006717.2:c.1832C>T	XP_016862206.1:p.Ala611Val
XM_017006718.1:c.1715C>T	XP_016862207.1:p.Ala572Val
XM_017006719.2:c.1634C>T	XP_016862208.1:p.Ala545Val
XM_024453616.1:c.1832C>T	XP_024309384.1:p.Ala611Val
XM_024453617.1:c.1517C>T	XP_024309385.1:p.Ala506Val
XR_001740190.2:n.1926C>T
NM_018075.5:c.1715C>T MANE Select	NP_060545.3:p.Ala572Val
NM_001204831.3:c.1715C>T	NP_001191760.1:p.Ala572Val
NM_001204832.3:c.1517C>T	NP_001191761.1:p.Ala506Val
NM_001204833.3:c.1382C>T	NP_001191762.1:p.Ala461Val
NM_001204834.3:c.1145C>T	NP_001191763.1:p.Ala382Val
NM_001346463.2:c.1832C>T	NP_001333392.1:p.Ala611Val
NM_001346464.2:c.1832C>T	NP_001333393.1:p.Ala611Val
NM_001346465.2:c.1715C>T	NP_001333394.1:p.Ala572Val
NM_001346466.2:c.1517C>T	NP_001333395.1:p.Ala506Val
NM_001346467.2:c.1832C>T	NP_001333396.1:p.Ala611Val
NM_001346468.2:c.1715C>T	NP_001333397.1:p.Ala572Val
NM_001346469.2:c.1517C>T	NP_001333398.1:p.Ala506Val