Canonical Allele Identifier: CA2014032682

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6347896T= , CM000674.2:g.6347896T=	GRCh38
NC_000012.11:g.6457062T= , CM000674.1:g.6457062T=	GRCh37
NC_000012.10:g.6327323T=	NCBI36
NG_011945.1:g.34462A=
NG_011945.2:g.34462A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1987A= MANE Select	ENSP00000228916.2:p.Thr663=
ENST00000228916.6:c.1987A=	ENSP00000228916.2:p.Thr663=
ENST00000338748.9:c.*1058A=	ENSP00000345028.5:n.*1058A=
ENST00000360168.7:c.2164A=	ENSP00000353292.3:p.Thr722=
ENST00000396966.6:c.*393A=	ENSP00000380166.2:n.*393A=
ENST00000540037.5:c.1087A=	ENSP00000440876.1:p.Thr363=
ENST00000543768.1:c.2056A=	ENSP00000438739.1:p.Thr686=
NM_001038.5:c.1987A=	NP_001029.1:p.Thr663=
NM_001159575.1:c.2056A=	NP_001153047.1:p.Thr686=
NM_001159576.1:c.2164A=	NP_001153048.1:p.Thr722=
NM_001038.6:c.1987A= MANE Select	NP_001029.1:p.Thr663=
NM_001159576.2:c.2164A=	NP_001153048.1:p.Thr722=
NM_001159575.2:c.2056A=	NP_001153047.1:p.Thr686=