Canonical Allele Identifier: CA5926194

Gene: ANO3 MUC15

Linked Data

• ClinVar Variation Id: 235242
• ClinVar RCV Id: RCV000224739
• dbSNP Id: rs293979
• ExAC: 11:26587350 G / C
• gnomAD v2: 11-26587350-G-C
• gnomAD v3: 11-26565803-G-C
• gnomAD v4: 11-26565803-G-C
• MyVariant Identifiers: chr11:g.26587350G>C (hg19) ; chr11:g.26565803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.26565803G>C , CM000673.2:g.26565803G>C	GRCh38
NC_000011.9:g.26587350G>C , CM000673.1:g.26587350G>C	GRCh37
NC_000011.8:g.26543926G>C	NCBI36
NG_042856.1:g.381681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256737.8:c.1447+6024G>C (ANO3) MANE Select	ENSP00000256737.3:n.1447+6024G>C
ENST00000529533.6:c.137C>G (MUC15) MANE Select	ENSP00000431983.1:p.Ser46Trp
ENST00000648230.1:c.137C>G (MUC15)	ENSP00000498053.1:p.Ser46Trp
ENST00000672621.1:c.1630+6024G>C (ANO3)	ENSP00000500506.1:n.1630+6024G>C
ENST00000256737.7:c.1447+6024G>C (ANO3)	ENSP00000256737.3:n.1447+6024G>C
ENST00000281268.12:c.137C>G (MUC15)	ENSP00000281268.8:p.Ser46Trp
ENST00000436318.6:c.137C>G (MUC15)	ENSP00000416753.2:p.Ser46Trp
ENST00000455601.6:c.56C>G (MUC15)	ENSP00000397339.2:p.Ser19Trp
ENST00000525139.5:c.1399+6024G>C (ANO3)	ENSP00000432576.1:n.1399+6024G>C
ENST00000527569.1:c.137C>G (MUC15)	ENSP00000431945.1:p.Ser46Trp
ENST00000529533.5:c.137C>G (MUC15)	ENSP00000431983.1:p.Ser46Trp
ENST00000531568.1:c.1009+6024G>C (ANO3)	ENSP00000432394.1:n.1009+6024G>C
NM_001135091.1:c.137C>G (MUC15)	NP_001128563.1:p.Ser46Trp
NM_001135092.1:c.137C>G (MUC15)	NP_001128564.1:p.Ser46Trp
NM_001313726.1:c.1630+6024G>C (ANO3)	NP_001300655.1:n.1630+6024G>C
NM_001313727.1:c.1009+6024G>C (ANO3)	NP_001300656.1:n.1009+6024G>C
NM_031418.2:c.1447+6024G>C (ANO3)	NP_113606.2:n.1447+6024G>C
NM_031418.3:c.1447+6024G>C (ANO3)	NP_113606.2:n.1447+6024G>C
NM_145650.3:c.56C>G (MUC15)	NP_663625.2:p.Ser19Trp
XM_011519908.1:c.404C>G (MUC15)	XP_011518210.1:p.Ser135Trp
XM_011519909.1:c.404C>G (MUC15)	XP_011518211.1:p.Ser135Trp
XM_017018118.2:c.1009+6024G>C (ANO3)	XP_016873607.1:n.1009+6024G>C
XM_017018119.2:c.718+6024G>C (ANO3)	XP_016873608.1:n.718+6024G>C
NM_001135091.2:c.137C>G (MUC15) MANE Select	NP_001128563.1:p.Ser46Trp
NM_031418.4:c.1447+6024G>C (ANO3) MANE Select	NP_113606.2:n.1447+6024G>C
NM_001135092.2:c.137C>G (MUC15)	NP_001128564.1:p.Ser46Trp
NM_145650.4:c.56C>G (MUC15)	NP_663625.2:p.Ser19Trp
NM_001313726.2:c.1630+6024G>C (ANO3)	NP_001300655.1:n.1630+6024G>C
NM_001313727.2:c.1009+6024G>C (ANO3)	NP_001300656.1:n.1009+6024G>C