Canonical Allele Identifier: CA7960674

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380772G>A , CM000678.2:g.23380772G>A	GRCh38
NC_000016.9:g.23392093G>A , CM000678.1:g.23392093G>A	GRCh37
NC_000016.8:g.23299594G>A	NCBI36
NG_011908.1:g.83503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.1894G>A MANE Select	ENSP00000345751.2:p.Glu632Lys
ENST00000307331.9:c.2029G>A	ENSP00000302874.5:p.Glu677Lys
ENST00000343070.6:c.1894G>A	ENSP00000345751.2:p.Glu632Lys
ENST00000564275.5:c.*899G>A	ENSP00000457754.1:n.*899G>A
ENST00000568085.5:c.1786G>A	ENSP00000455673.1:p.Glu596Lys
ENST00000568923.5:c.1813G>A	ENSP00000456309.1:p.Glu605Lys
NM_000336.2:c.1894G>A	NP_000327.2:p.Glu632Lys
XM_011545913.1:c.1927G>A	XP_011544215.1:p.Glu643Lys
XM_011545914.1:c.1912G>A	XP_011544216.1:p.Glu638Lys
XM_011545913.2:c.1927G>A	XP_011544215.1:p.Glu643Lys
XM_017023525.1:c.1951G>A	XP_016879014.1:p.Glu651Lys
XM_017023526.1:c.1843G>A	XP_016879015.1:p.Glu615Lys
NM_000336.3:c.1894G>A MANE Select	NP_000327.2:p.Glu632Lys