Canonical Allele Identifier: CA395113972

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380697G>A , CM000678.2:g.23380697G>A	GRCh38
NC_000016.9:g.23392018G>A , CM000678.1:g.23392018G>A	GRCh37
NC_000016.8:g.23299519G>A	NCBI36
NG_011908.1:g.83428G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1819G>A MANE Select	NP_000327.2:p.Glu607Lys
ENST00000343070.7:c.1819G>A MANE Select	ENSP00000345751.2:p.Glu607Lys
NM_000336.2:c.1819G>A	NP_000327.2:p.Glu607Lys
ENST00000307331.9:c.1954G>A	ENSP00000302874.5:p.Glu652Lys
ENST00000343070.6:c.1819G>A	ENSP00000345751.2:p.Glu607Lys
ENST00000564275.5:c.*824G>A	ENSP00000457754.1:n.*824G>A
ENST00000568085.5:c.1711G>A	ENSP00000455673.1:p.Glu571Lys
ENST00000568923.5:c.1738G>A	ENSP00000456309.1:p.Glu580Lys
XM_011545913.1:c.1852G>A	XP_011544215.1:p.Glu618Lys
XM_011545913.2:c.1852G>A	XP_011544215.1:p.Glu618Lys
XM_011545914.1:c.1837G>A	XP_011544216.1:p.Glu613Lys
XM_017023525.1:c.1876G>A	XP_016879014.1:p.Glu626Lys
XM_017023526.1:c.1768G>A	XP_016879015.1:p.Glu590Lys