Canonical Allele Identifier: CA494460100

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380574C>A , CM000678.2:g.23380574C>A	GRCh38
NC_000016.9:g.23391895C>A , CM000678.1:g.23391895C>A	GRCh37
NC_000016.8:g.23299396C>A	NCBI36
NG_011908.1:g.83305C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1696C>A MANE Select	NP_000327.2:p.Arg566=
ENST00000343070.7:c.1696C>A MANE Select	ENSP00000345751.2:p.Arg566=
NM_000336.2:c.1696C>A	NP_000327.2:p.Arg566=
ENST00000307331.9:c.1831C>A	ENSP00000302874.5:p.Arg611=
ENST00000343070.6:c.1696C>A	ENSP00000345751.2:p.Arg566=
ENST00000564275.5:c.*701C>A	ENSP00000457754.1:n.*701C>A
ENST00000568085.5:c.1588C>A	ENSP00000455673.1:p.Arg530=
ENST00000568923.5:c.1615C>A	ENSP00000456309.1:p.Arg539=
XM_011545913.1:c.1729C>A	XP_011544215.1:p.Arg577=
XM_011545913.2:c.1729C>A	XP_011544215.1:p.Arg577=
XM_011545914.1:c.1714C>A	XP_011544216.1:p.Arg572=
XM_017023525.1:c.1753C>A	XP_016879014.1:p.Arg585=
XM_017023526.1:c.1645C>A	XP_016879015.1:p.Arg549=