Canonical Allele Identifier: CA2213314456

Gene: SCNN1B

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1615G= MANE Select	NP_000327.2:p.Glu539=
ENST00000343070.7:c.1615G= MANE Select	ENSP00000345751.2:p.Glu539=
NM_000336.2:c.1615G=	NP_000327.2:p.Glu539=
ENST00000307331.9:c.1750G=	ENSP00000302874.5:p.Glu584=
ENST00000343070.6:c.1615G=	ENSP00000345751.2:p.Glu539=
ENST00000564275.5:c.*620G=	ENSP00000457754.1:n.*620G=
ENST00000568085.5:c.1507G=	ENSP00000455673.1:p.Glu503=
ENST00000568923.5:c.1534G=	ENSP00000456309.1:p.Glu512=
XM_011545913.1:c.1648G=	XP_011544215.1:p.Glu550=
XM_011545913.2:c.1648G=	XP_011544215.1:p.Glu550=
XM_011545914.1:c.1633G=	XP_011544216.1:p.Glu545=
XM_017023525.1:c.1672G=	XP_016879014.1:p.Glu558=
XM_017023526.1:c.1564G=	XP_016879015.1:p.Glu522=