Canonical Allele Identifier: CA119966

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380493G>A , CM000678.2:g.23380493G>A	GRCh38
NC_000016.9:g.23391814G>A , CM000678.1:g.23391814G>A	GRCh37
NC_000016.8:g.23299315G>A	NCBI36
NG_011908.1:g.83224G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1615G>A MANE Select	NP_000327.2:p.Glu539Lys
ENST00000343070.7:c.1615G>A MANE Select	ENSP00000345751.2:p.Glu539Lys
NM_000336.2:c.1615G>A	NP_000327.2:p.Glu539Lys
ENST00000307331.9:c.1750G>A	ENSP00000302874.5:p.Glu584Lys
ENST00000343070.6:c.1615G>A	ENSP00000345751.2:p.Glu539Lys
ENST00000564275.5:c.*620G>A	ENSP00000457754.1:n.*620G>A
ENST00000568085.5:c.1507G>A	ENSP00000455673.1:p.Glu503Lys
ENST00000568923.5:c.1534G>A	ENSP00000456309.1:p.Glu512Lys
XM_011545913.1:c.1648G>A	XP_011544215.1:p.Glu550Lys
XM_011545913.2:c.1648G>A	XP_011544215.1:p.Glu550Lys
XM_011545914.1:c.1633G>A	XP_011544216.1:p.Glu545Lys
XM_017023525.1:c.1672G>A	XP_016879014.1:p.Glu558Lys
XM_017023526.1:c.1564G>A	XP_016879015.1:p.Glu522Lys