Canonical Allele Identifier: CA2014033339

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6349184A= , CM000674.2:g.6349184A=	GRCh38
NC_000012.11:g.6458350A= , CM000674.1:g.6458350A=	GRCh37
NC_000012.10:g.6328611A=	NCBI36
NG_011945.1:g.33174T=
NG_011945.2:g.33174T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.1477T= MANE Select	NP_001029.1:p.Trp493=
ENST00000228916.7:c.1477T= MANE Select	ENSP00000228916.2:p.Trp493=
NM_001038.5:c.1477T=	NP_001029.1:p.Trp493=
NM_001159575.1:c.1546T=	NP_001153047.1:p.Trp516=
NM_001159575.2:c.1546T=	NP_001153047.1:p.Trp516=
NM_001159576.1:c.1654T=	NP_001153048.1:p.Trp552=
NM_001159576.2:c.1654T=	NP_001153048.1:p.Trp552=
ENST00000228916.6:c.1477T=	ENSP00000228916.2:p.Trp493=
ENST00000338748.9:c.*548T=	ENSP00000345028.5:n.*548T=
ENST00000360168.7:c.1654T=	ENSP00000353292.3:p.Trp552=
ENST00000396966.6:c.1439+143T=	ENSP00000380166.2:n.1439+143T=
ENST00000457871.2:n.424T=
ENST00000540037.5:c.577T=	ENSP00000440876.1:p.Trp193=
ENST00000543768.1:c.1546T=	ENSP00000438739.1:p.Trp516=
XR_001748982.1:n.87+917A=
XR_001748983.1:n.87+917A=
XR_001748984.1:n.87+917A=