Canonical Allele Identifier: CA2213298464

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23348844C= , CM000678.2:g.23348844C=	GRCh38
NC_000016.9:g.23360165C= , CM000678.1:g.23360165C=	GRCh37
NC_000016.8:g.23267666C=	NCBI36
NG_011908.1:g.51575C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.245C= MANE Select	NP_000327.2:p.Ser82=
ENST00000343070.7:c.245C= MANE Select	ENSP00000345751.2:p.Ser82=
NM_000336.2:c.245C=	NP_000327.2:p.Ser82=
ENST00000307331.9:c.380C=	ENSP00000302874.5:p.Ser127=
ENST00000343070.6:c.245C=	ENSP00000345751.2:p.Ser82=
ENST00000564275.5:c.245C=	ENSP00000457754.1:p.Ser82=
ENST00000566870.1:n.50C=
ENST00000568085.5:c.245C=	ENSP00000455673.1:p.Ser82=
ENST00000568923.5:c.245C=	ENSP00000456309.1:p.Ser82=
ENST00000569789.1:n.431C=
XM_011545913.1:c.278C=	XP_011544215.1:p.Ser93=
XM_011545913.2:c.278C=	XP_011544215.1:p.Ser93=
XM_011545914.1:c.263C=	XP_011544216.1:p.Ser88=
XM_017023525.1:c.302C=	XP_016879014.1:p.Ser101=
XM_017023526.1:c.302C=	XP_016879015.1:p.Ser101=