Canonical Allele Identifier: CA2014045519

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374455A= , CM000674.2:g.6374455A=	GRCh38
NC_000012.11:g.6483621A= , CM000674.1:g.6483621A=	GRCh37
NC_000012.10:g.6353882A=	NCBI36
NG_011945.1:g.7903T=
NG_033039.1:g.4088A=
NG_011945.2:g.7903T=
NG_033039.2:g.4088A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.329T= MANE Select	ENSP00000228916.2:p.Phe110=
ENST00000228916.6:c.329T=	ENSP00000228916.2:p.Phe110=
ENST00000338748.9:c.329T=	ENSP00000345028.5:p.Phe110=
ENST00000360168.7:c.506T=	ENSP00000353292.3:p.Phe169=
ENST00000396966.6:c.329T=	ENSP00000380166.2:p.Phe110=
ENST00000536176.1:n.410T=
ENST00000536788.1:c.392T=	ENSP00000443434.1:p.Phe131=
ENST00000538979.5:n.82+898T=
ENST00000542260.1:n.594T=
ENST00000543585.1:n.465T=
ENST00000543768.1:c.398T=	ENSP00000438739.1:p.Phe133=
ENST00000544882.1:n.333T=
NM_001038.5:c.329T=	NP_001029.1:p.Phe110=
NM_001159575.1:c.398T=	NP_001153047.1:p.Phe133=
NM_001159576.1:c.506T=	NP_001153048.1:p.Phe169=
NM_001038.6:c.329T= MANE Select	NP_001029.1:p.Phe110=
NM_001159576.2:c.506T=	NP_001153048.1:p.Phe169=
NM_001159575.2:c.398T=	NP_001153047.1:p.Phe133=