Canonical Allele Identifier: CA2014032843

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6348198G= , CM000674.2:g.6348198G=	GRCh38
NC_000012.11:g.6457364G= , CM000674.1:g.6457364G=	GRCh37
NC_000012.10:g.6327625G=	NCBI36
NG_011945.1:g.34160C=
NG_011945.2:g.34160C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.1685C= MANE Select	NP_001029.1:p.Ser562=
ENST00000228916.7:c.1685C= MANE Select	ENSP00000228916.2:p.Ser562=
NM_001038.5:c.1685C=	NP_001029.1:p.Ser562=
NM_001159575.1:c.1754C=	NP_001153047.1:p.Ser585=
NM_001159575.2:c.1754C=	NP_001153047.1:p.Ser585=
NM_001159576.1:c.1862C=	NP_001153048.1:p.Ser621=
NM_001159576.2:c.1862C=	NP_001153048.1:p.Ser621=
ENST00000228916.6:c.1685C=	ENSP00000228916.2:p.Ser562=
ENST00000338748.9:c.*756C=	ENSP00000345028.5:n.*756C=
ENST00000360168.7:c.1862C=	ENSP00000353292.3:p.Ser621=
ENST00000396966.6:c.*91C=	ENSP00000380166.2:n.*91C=
ENST00000539953.1:n.286C=
ENST00000540037.5:c.785C=	ENSP00000440876.1:p.Ser262=
ENST00000543768.1:c.1754C=	ENSP00000438739.1:p.Ser585=
XR_001748982.1:n.18G=
XR_001748983.1:n.18G=
XR_001748984.1:n.18G=